Focal dermal hypoplasia
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| Focal dermal hypoplasia | |
| ICD-10 | Q82.8 |
|---|---|
| ICD-9 | 759.89 |
| OMIM | 305600 |
| DiseasesDB | 29896 |
| eMedicine | derm/155 |
| MeSH | D005489 |
Focal dermal hypoplasia is a form of ectodermal dysplasia.
It is also known as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin.[1]
It has been associated with PORCN, on the X chromosome.[2]
References
- ↑ Template:WhoNamedIt
- ↑ Wang X, Reid Sutton V, Omar Peraza-Llanes J; et al. (2007). "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia". Nat. Genet. 39 (7): 836–8. doi:10.1038/ng2057. PMID 17546030. Unknown parameter
|month=ignored (help)
External links
Template:Congenital malformations and deformations of integument Template:X-linked disorders