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

Sofia Frisk; Catherine Grandpeix-Guyodo; Karin Popovic Silwerfeldt; Helgi Thor Hjartarson; Dimitris Chatzianastassiou; Irina Magnusson; Tobias Laurell; Ann Nordgren

Journal ArticleOPEN ACCESS

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

Clinical Case Reports (2018) 6(11) 2103-2110

DOI: 10.1002/ccr3.1783

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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.

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Frisk, S., Grandpeix-Guyodo, C., Popovic Silwerfeldt, K., Hjartarson, H. T., Chatzianastassiou, D., Magnusson, I., … Nordgren, A. (2018). Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. Clinical Case Reports, 6(11), 2103–2110. https://doi.org/10.1002/ccr3.1783

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

Abstract

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