A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported ma...

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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Autores principales: Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Brendan H.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5466597/
https://ncbi.nlm.nih.gov/pubmed/28626639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.06.002
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