这里,我们报道了一名男性Goltz综合征患者PORCN基因中的一个新的镶嵌突变。我们还将所有报道的男性的表型与确认的分子诊断进行比较。该报告有助于进一步阐明Goltz综合征的表型,并表明男性的表达各不相同。
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.