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Blaschko Linear Enamel Defects – A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue deri...

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Detalhes bibliográficos
Publicado no:Case Rep Dermatol
Main Authors: Gysin, Stefan, Itin, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4464097/
https://ncbi.nlm.nih.gov/pubmed/26078738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000430781
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