%0 Case Reports
%T Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.
%A Frisk S
%A Grandpeix-Guyodo C
%A Popovic Silwerfeldt K
%A Hjartarson HT
%A Chatzianastassiou D
%A Magnusson I
%A Laurell T
%A Nordgren A
%J Clin Case Rep
%V 6
%N 11
%D Nov 2018
%M 30455901
暂无%R 10.1002/ccr3.1783
%X 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.