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

ABSTRACT: 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.

SUBMITTER: Frisk S 

PROVIDER: S-EPMC6230642 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature