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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

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

Frisk Sofia S Grandpeix-Guyodo Catherine C Popovic Silwerfeldt Karin K Hjartarson Helgi Thor HT Chatzianastassiou Dimitris D Magnusson Irina I Laurell Tobias T Nordgren Ann A

Clinical case reports 20180921 11

Here, we report a novel mosaic mutation in the <i>PORCN</i> 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. ...[more]

PMID: 30455901

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