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Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review
Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare X-linked dominant multisystemic disease involving the ectoderm, mesoderm, and endoderm. About 95% of the cases appear de novo, and 90% of them are females. Recently, the studies revealed that FDH is caused by a mutation in the PORCN gene. We...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5981586/ https://www.ncbi.nlm.nih.gov/pubmed/29867430 http://dx.doi.org/10.1159/000488521 |