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

男性 Goltz 综合征 ： 携带新型 PORCN 变体的男性患者的临床报告和文献综述。

• 发表时间: Nov 2018
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.1783
• PMID: 30455901
• 文章类型: Case Reports
• 作者列表: Frisk S,Grandpeix-Guyodo C,Popovic Silwerfeldt K,Hjartarson HT,Chatzianastassiou D,Magnusson I,Laurell T,Nordgren A

关键词: Goltz syndrome; PORCN; focal dermal hypoplasia; male

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.

摘要

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。