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

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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

  1. Template:WhoNamedIt
  2. 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

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