Frisk Sofia, Grandpeix-Guyodo Catherine, Popovic Silwerfeldt Karin, Hjartarson Helgi Thor, Chatzianastassiou Dimitris, Magnusson Irina, Laurell Tobias, Nordgren Ann
Department of Molecular Medicine and Surgery Center of Molecular Medicine Karolinska Institutet Stockholm Sweden.
Department of Clinical Genetics Karolinska University Laboratory Karolinska University Hospital Stockholm Sweden.
Clin Case Rep. 2018 Sep 21;6(11):2103-2110. doi: 10.1002/ccr3.1783. eCollection 2018 Nov.
Here, we report a novel mosaic mutation in the 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.
在此,我们报告了一名患有戈尔茨综合征的男性患者该基因中的一种新型镶嵌突变。我们还比较了所有已报告的经确诊分子诊断的男性患者的表型。本报告有助于进一步阐明戈尔茨综合征的表型,并表明其在男性中的表达存在差异。