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一个母亲和两个女儿的病例系列，她们存在基因缺失，表现出可变表达和不完全外显率。

A case series of a mother and two daughters with a gene deletion demonstrating variable expressivity and incomplete penetrance.

作者信息

Elward Cameron, Berg Janet, Oberlin John M, Rohena Luis

机构信息

Division of Genetics Department of Pediatrics Brooke Army Medical Center Joint Base San Antonio Texas USA.

Division of Endocrinology Department of Pediatrics Brooke Army Medical Center Joint Base San Antonio Texas USA.

出版信息

Clin Case Rep. 2020 Aug 30;8(11):2138-2144. doi: 10.1002/ccr3.3085. eCollection 2020 Nov.

DOI:10.1002/ccr3.3085
PMID:33235745
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7669391/
Abstract

This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.

摘要

该病例系列及文献综述支持，携带GLI2基因致病性变异的患者表现出常染色体显性遗传模式、可变表达及不完全外显率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f622/7669391/9d4709654a76/CCR3-8-2138-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f622/7669391/9d4709654a76/CCR3-8-2138-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f622/7669391/9d4709654a76/CCR3-8-2138-g001.jpg

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J Clin Res Pediatr Endocrinol. 2020 Sep 2;12(3):319-328. doi: 10.4274/jcrpe.galenos.2019.2019.0142. Epub 2019 Nov 29.
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