Neurofibromatosis type 1 epidemiology and demographics: Difference between revisions
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* '''Neurofibromatosis type 1''' is the most common single [[gene]] disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.<ref name="urlNeurofibromatosis - Orthopaedics and Trauma">{{cite web |url=https://www.orthopaedicsandtraumajournal.co.uk/article/S1877-1327(15)00017-2/fulltext |title=Neurofibromatosis - Orthopaedics and Trauma |format= |work= |accessdate=}}</ref> | * '''Neurofibromatosis type 1''' is the most common single [[gene]] disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.<ref name="urlNeurofibromatosis - Orthopaedics and Trauma">{{cite web |url=https://www.orthopaedicsandtraumajournal.co.uk/article/S1877-1327(15)00017-2/fulltext |title=Neurofibromatosis - Orthopaedics and Trauma |format= |work= |accessdate=}}</ref> | ||
* The country with major prevalence of neurofibromatosis reported is Israel, while the one with least reported is Denmark.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid7853369" /><ref name="pmid14877597" /> | * The country with major [[prevalence]] of [[neurofibromatosis type 1]] reported is Israel, while the one with least reported is Denmark.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid7853369" /><ref name="pmid14877597" /> | ||
* Older paternal age may increase the chances for de novo mutations in NF1 gene.<ref name="pmid282300612">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid9358268">{{cite journal |vauthors=Bunin GR, Needle M, Riccardi VM |title=Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues |journal=Genet. Epidemiol. |volume=14 |issue=5 |pages=507–16 |date=1997 |pmid=9358268 |doi=10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y |url=}}</ref><ref name="pmid22302476">{{cite journal |vauthors=Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M |title=The importance of advanced parental age in the origin of neurofibromatosis type 1 |journal=Am. J. Med. Genet. A |volume=158A |issue=3 |pages=519–23 |date=March 2012 |pmid=22302476 |doi=10.1002/ajmg.a.34413 |url=}}</ref> | * Older [[Paternal age effect|paternal age]] may increase the chances for de novo [[Mutation|mutations]] in [[NF1|NF1 gene]].<ref name="pmid282300612">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid9358268">{{cite journal |vauthors=Bunin GR, Needle M, Riccardi VM |title=Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues |journal=Genet. Epidemiol. |volume=14 |issue=5 |pages=507–16 |date=1997 |pmid=9358268 |doi=10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y |url=}}</ref><ref name="pmid22302476">{{cite journal |vauthors=Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M |title=The importance of advanced parental age in the origin of neurofibromatosis type 1 |journal=Am. J. Med. Genet. A |volume=158A |issue=3 |pages=519–23 |date=March 2012 |pmid=22302476 |doi=10.1002/ajmg.a.34413 |url=}}</ref> | ||
* There is no race or gender predilection for neurofibromatosis type 1.<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?" /><ref name="urlwww.orpha.net">{{cite web |url=https://www.orpha.net/data/patho/Pro/en/Neurofibromatosis1-FRenPro185.pdf |title=www.orpha.net |format= |work= |accessdate=}}</ref> | * There is no [[race]] or [[Gender-based medicine|gender]] predilection for [[neurofibromatosis type 1]].<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?" /><ref name="urlwww.orpha.net">{{cite web |url=https://www.orpha.net/data/patho/Pro/en/Neurofibromatosis1-FRenPro185.pdf |title=www.orpha.net |format= |work= |accessdate=}}</ref> | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Incidence=== | ===Incidence=== | ||
*The incidence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.<ref name="pmid28230061" /> | *The [[Incidence (epidemiology)|incidence]] of [[neurofibromatosis type 1]] is approximately 33.33 per 100,000 individuals worldwide.<ref name="pmid28230061" /> | ||
*The incidence of neurofibromatosis type 1 is approximately 14-26 per 100,000 individuals in the United States.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="Riccardi1987">{{cite journal|last1=Riccardi|first1=Vincent M.|title=Neurofibromatosis|journal=Neurologic Clinics|volume=5|issue=3|year=1987|pages=337–349|issn=07338619|doi=10.1016/S0733-8619(18)30909-5}}</ref> | *The [[Incidence (epidemiology)|incidence]] of [[neurofibromatosis type 1]] is approximately 14-26 per 100,000 individuals in the United States.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="Riccardi1987">{{cite journal|last1=Riccardi|first1=Vincent M.|title=Neurofibromatosis|journal=Neurologic Clinics|volume=5|issue=3|year=1987|pages=337–349|issn=07338619|doi=10.1016/S0733-8619(18)30909-5}}</ref> | ||
===Prevalence=== | ===Prevalence=== | ||
*The prevalence of neurofibromatosis is approximately 33.33 per 100,000 individuals worldwide.<ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid25354145">{{cite journal |vauthors=Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S |title=Incidence and mortality of neurofibromatosis: a total population study in Finland |journal=J. Invest. Dermatol. |volume=135 |issue=3 |pages=904–906 |date=March 2015 |pmid=25354145 |doi=10.1038/jid.2014.465 |url=}}</ref> | *The [[prevalence]] of [[neurofibromatosis type 1]] is approximately 33.33 per 100,000 individuals [[Worldwide Protein Data Bank|worldwide]].<ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid25354145">{{cite journal |vauthors=Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S |title=Incidence and mortality of neurofibromatosis: a total population study in Finland |journal=J. Invest. Dermatol. |volume=135 |issue=3 |pages=904–906 |date=March 2015 |pmid=25354145 |doi=10.1038/jid.2014.465 |url=}}</ref> | ||
*Prevalence can can vary from one country to another, beign 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia.<ref name="pmid28230061" /><ref name="pmid25354145" /> | *[[Prevalence]] can can vary from one country to another, beign 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia.<ref name="pmid28230061" /><ref name="pmid25354145" /> | ||
*The highest prevalence of neurofibromatosis type 1 is in the population between 10 to 19 years old.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /> | *The highest [[prevalence]] of [[neurofibromatosis type 1]] is in the [[population]] between 10 to 19 years old.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /> | ||
===Case-fatality rate/Mortality rate=== | ===Case-fatality rate/Mortality rate=== | ||
* Neurofibromatosis type | * Neurofibromatosis type 1 decreases [[life expectancy]] in approximately 15-20 years from a normal person.<ref name="pmid11283797">{{cite journal |vauthors=Rasmussen SA, Yang Q, Friedman JM |title=Mortality in neurofibromatosis 1: an analysis using U.S. death certificates |journal=Am. J. Hum. Genet. |volume=68 |issue=5 |pages=1110–8 |date=May 2001 |pmid=11283797 |pmc=1226092 |doi=10.1086/320121 |url=}}</ref><ref name="pmid214390342">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref> | ||
* The mean annual frequency of neurofibromatosis type 1-associated deaths was 9.3 per 100,000 deaths.<ref name="pmid214390342" /><ref name="pmid214390343">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref> | * The mean annual frequency of neurofibromatosis type 1-associated deaths was 9.3 per 100,000 deaths.<ref name="pmid214390342" /><ref name="pmid214390343">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref> | ||
* The mean annual mortality associated with neurofibromatosis type 1 is 0.092 per 100,000 people.<ref name="pmid214390343" /> | * The mean annual [[mortality rate]] associated with [[neurofibromatosis type 1]] is 0.092 per 100,000 people.<ref name="pmid214390343" /> | ||
===Age=== | ===Age=== | ||
* The median age of diagnosis for neurofibromatosis type 1 is usually around 20 years old, although it can range from 3 months to 60 years old.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /> | * The [[median]] age of [[diagnosis]] for [[neurofibromatosis type 1]] is usually around 20 years old, although it can range from 3 months to 60 years old.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /> | ||
* Since its a hereditary disorder, patients of all age groups may develop neurofibromatosis type 1 symptoms. | * Since its a [[hereditary disorder]], patients of all [[age]] groups may develop [[neurofibromatosis type 1]] [[symptoms]]. | ||
* Prevalence of neurofibromatosis has been found to be increased in individuals born from parents with advanced age.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid282300612" /><ref name="pmid9358268" /> | *[[Prevalence]] of [[Neurofibromatosis type I|neurofibromatosis]] has been found to be increased in individuals born from parents with [[Old age|advanced age]].<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid282300612" /><ref name="pmid9358268" /> | ||
* The mean age of mothers who give to birth of a child with neurofibromatosis type 1 is 30 years , while the paternal age is 33.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics">{{cite web |url=https://jmg.bmj.com/content/37/8/632 |title=Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics |format= |work= |accessdate=}}</ref> | * The [[mean]] age of mothers who give to [[birth]] of a child with [[neurofibromatosis type 1]] is 30 years , while the paternal age is 33.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics">{{cite web |url=https://jmg.bmj.com/content/37/8/632 |title=Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics |format= |work= |accessdate=}}</ref> | ||
===Race=== | ===Race=== | ||
*There is no racial predilection to | *There is no racial predilection to [[neurofibromatosis type 1]].<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?" /> | ||
*There seems to be a lower incidence of optic nerve glioma in African-American population.<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?">{{cite web |url=https://www.medscape.com/answers/1177266-103891/what-are-the-racial-predilections-for-neurofibromatosis-type-1-nf1 |title=What are the racial predilections for neurofibromatosis type 1 (NF1)? |format= |work= |accessdate=}}</ref> | *There seems to be a lower [[Incidence (epidemiology)|incidence]] of [[optic nerve glioma]] in African-American population.<ref name="urlWhat are the racial predilections for neurofibromatosis type 1 (NF1)?">{{cite web |url=https://www.medscape.com/answers/1177266-103891/what-are-the-racial-predilections-for-neurofibromatosis-type-1-nf1 |title=What are the racial predilections for neurofibromatosis type 1 (NF1)? |format= |work= |accessdate=}}</ref> | ||
===Gender=== | ===Gender=== | ||
* | *[[Neurofibromatosis type 1]] affects men and women equally.<ref name="urlwww.orpha.net" /> | ||
===Region=== | ===Region=== | ||
*The majority of neurofibromatosis type 1 cases are reported in Israel.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid7853369">{{cite journal |vauthors=Garty BZ, Laor A, Danon YL |title=Neurofibromatosis type 1 in Israel: survey of young adults |journal=J. Med. Genet. |volume=31 |issue=11 |pages=853–7 |date=November 1994 |pmid=7853369 |pmc=1016658 |doi=10.1136/jmg.31.11.853 |url=}}</ref> | *The majority of [[neurofibromatosis type 1]] cases are reported in Israel.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid7853369">{{cite journal |vauthors=Garty BZ, Laor A, Danon YL |title=Neurofibromatosis type 1 in Israel: survey of young adults |journal=J. Med. Genet. |volume=31 |issue=11 |pages=853–7 |date=November 1994 |pmid=7853369 |pmc=1016658 |doi=10.1136/jmg.31.11.853 |url=}}</ref> | ||
*The country with less cases of neurofibromatosis type 1 reported is Denmark.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid14877597">{{cite journal |vauthors=BORBERG A |title=Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes |journal=Acta Psychiatr Neurol Scand Suppl |volume=71 |issue= |pages=1–239 |date=1951 |pmid=14877597 |doi= |url=}}</ref> | *The country with less cases of [[neurofibromatosis type 1]] reported is Denmark.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid14877597">{{cite journal |vauthors=BORBERG A |title=Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes |journal=Acta Psychiatr Neurol Scand Suppl |volume=71 |issue= |pages=1–239 |date=1951 |pmid=14877597 |doi= |url=}}</ref> | ||
===Developing Countries=== | ===Developing Countries=== | ||
* Many countries lack a proper electronic patient record, so many times, researcher have to rely on death | * Many countries lack a proper electronic patient [[Medical Record|record]], so many times, [[researcher]] have to rely on [[death certificate]]<nowiki/>s and non-population-based [[Cohort study|cohorts]] to estimate risks of [[neurofibromatosis type 1]].<ref name="pmid28230061" /><ref name="pmid21439034">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref> | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
- Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.[1]
- The country with major prevalence of neurofibromatosis type 1 reported is Israel, while the one with least reported is Denmark.[2][3][4]
- Older paternal age may increase the chances for de novo mutations in NF1 gene.[5][6][7]
- There is no race or gender predilection for neurofibromatosis type 1.[8][9]
Epidemiology and Demographics
Incidence
- The incidence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.[10]
- The incidence of neurofibromatosis type 1 is approximately 14-26 per 100,000 individuals in the United States.[2][11]
Prevalence
- The prevalence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.[10][12]
- Prevalence can can vary from one country to another, beign 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia.[10][12]
- The highest prevalence of neurofibromatosis type 1 is in the population between 10 to 19 years old.[2]
Case-fatality rate/Mortality rate
- Neurofibromatosis type 1 decreases life expectancy in approximately 15-20 years from a normal person.[13][14]
- The mean annual frequency of neurofibromatosis type 1-associated deaths was 9.3 per 100,000 deaths.[14][15]
- The mean annual mortality rate associated with neurofibromatosis type 1 is 0.092 per 100,000 people.[15]
Age
- The median age of diagnosis for neurofibromatosis type 1 is usually around 20 years old, although it can range from 3 months to 60 years old.[2]
- Since its a hereditary disorder, patients of all age groups may develop neurofibromatosis type 1 symptoms.
- Prevalence of neurofibromatosis has been found to be increased in individuals born from parents with advanced age.[2][5][6]
- The mean age of mothers who give to birth of a child with neurofibromatosis type 1 is 30 years , while the paternal age is 33.[2]
Race
- There is no racial predilection to neurofibromatosis type 1.[8]
- There seems to be a lower incidence of optic nerve glioma in African-American population.[8]
Gender
- Neurofibromatosis type 1 affects men and women equally.[9]
Region
- The majority of neurofibromatosis type 1 cases are reported in Israel.[2][3]
- The country with less cases of neurofibromatosis type 1 reported is Denmark.[2][4]
Developing Countries
- Many countries lack a proper electronic patient record, so many times, researcher have to rely on death certificates and non-population-based cohorts to estimate risks of neurofibromatosis type 1.[10][16]
References
- ↑ "Neurofibromatosis - Orthopaedics and Trauma".
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 "Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics".
- ↑ 3.0 3.1 Garty BZ, Laor A, Danon YL (November 1994). "Neurofibromatosis type 1 in Israel: survey of young adults". J. Med. Genet. 31 (11): 853–7. doi:10.1136/jmg.31.11.853. PMC 1016658. PMID 7853369.
- ↑ 4.0 4.1 BORBERG A (1951). "Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes". Acta Psychiatr Neurol Scand Suppl. 71: 1–239. PMID 14877597.
- ↑ 5.0 5.1 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ 6.0 6.1 Bunin GR, Needle M, Riccardi VM (1997). "Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues". Genet. Epidemiol. 14 (5): 507–16. doi:10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y. PMID 9358268.
- ↑ Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M (March 2012). "The importance of advanced parental age in the origin of neurofibromatosis type 1". Am. J. Med. Genet. A. 158A (3): 519–23. doi:10.1002/ajmg.a.34413. PMID 22302476.
- ↑ 8.0 8.1 8.2 "What are the racial predilections for neurofibromatosis type 1 (NF1)?".
- ↑ 9.0 9.1 "www.orpha.net" (PDF).
- ↑ 10.0 10.1 10.2 10.3 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ Riccardi, Vincent M. (1987). "Neurofibromatosis". Neurologic Clinics. 5 (3): 337–349. doi:10.1016/S0733-8619(18)30909-5. ISSN 0733-8619.
- ↑ 12.0 12.1 Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S (March 2015). "Incidence and mortality of neurofibromatosis: a total population study in Finland". J. Invest. Dermatol. 135 (3): 904–906. doi:10.1038/jid.2014.465. PMID 25354145.
- ↑ Rasmussen SA, Yang Q, Friedman JM (May 2001). "Mortality in neurofibromatosis 1: an analysis using U.S. death certificates". Am. J. Hum. Genet. 68 (5): 1110–8. doi:10.1086/320121. PMC 1226092. PMID 11283797.
- ↑ 14.0 14.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
- ↑ 15.0 15.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
- ↑ Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.