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男性戈尔茨综合征：一例携带新型变异的男性患者的临床报告及文献综述

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

作者信息

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

机构信息

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.

出版信息

Clin Case Rep. 2018 Sep 21;6(11):2103-2110. doi: 10.1002/ccr3.1783. eCollection 2018 Nov.

DOI:10.1002/ccr3.1783
PMID:30455901
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6230642/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05ab/6230642/210a6a97fd09/CCR3-6-2103-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05ab/6230642/210a6a97fd09/CCR3-6-2103-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05ab/6230642/210a6a97fd09/CCR3-6-2103-g001.jpg

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Neurology. 2018 Jan 23;90(4):e323-e331. doi: 10.1212/WNL.0000000000004865. Epub 2017 Dec 27.
2
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Focal dermal hypoplasia: inheritance from father to daughter.
Clin Exp Dermatol. 2017 Jun;42(4):457-459. doi: 10.1111/ced.13047. Epub 2017 Apr 10.
4
Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023.
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Development. 2023 Feb 15;150(3). doi: 10.1242/dev.201352. Epub 2023 Feb 10.
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Educational Case: Rickets.教学案例：佝偻病
Acad Pathol. 2022 Sep 23;9(1):100054. doi: 10.1016/j.acpath.2022.100054. eCollection 2022.
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