Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis. This report serves to further clarify the phenotype of Goltz syndrome and suggests that expression in males varies.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Frisk, Sofia, Grandpeix‐Guyodo, Catherine, Popovic Silwerfeldt, Karin, Hjartarson, Helgi Thor, Chatzianastassiou, Dimitris, Magnusson, Irina, Laurell, Tobias, Nordgren, Ann
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6230642/
https://ncbi.nlm.nih.gov/pubmed/30455901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1783
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