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

摘要

Key Clinical Message 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.