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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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Библиографические подробности
Опубликовано в: :Case Rep Dermatol
Главные авторы: Gysin, Stefan, Itin, Peter
Формат: Artigo
Язык:Inglês
Опубликовано: S. Karger AG 2015
Предметы:
Online-ссылка: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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