A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant

被引：2
|
作者：
Sabir, Ataf H. [1 ,2 ,3 ]
Singh, Ananya [3 ]
Elley, George [4 ]
Wassemer, Evangeline [5 ]
Foster, Katharine [6 ]
Sloman, Melissa [7 ]
Lim, Derek [1 ,2 ,3 ]
机构：
[1] Birmingham Womens & Childrens NHS Fdn Trust, Dept Clin Genet, Birmingham, W Midlands, England
[2] Birmingham Hlth Partners, Birmingham, W Midlands, England
[3] Univ Birmingham, Dept Med, Birmingham, W Midlands, England
[4] Ashford & St Peters NHS Trust, Dept Med, Fdn Doctor, Ashford, Kent, England
[5] Birmingham Womens & Childrens Hosp NHS Trust, Dept Paediat Neurol, Birmingham, W Midlands, England
[6] Birmingham Womens & Childrens Hosp NHS Trust, Dept Paediat Radiol, Birmingham, W Midlands, England
[7] Royal Devon & Exeter NHS Fdn Trust, Exeter Genom Lab, Exeter, Devon, England
来源：
CLINICAL DYSMORPHOLOGY | 2021年 / 30卷 / 02期
关键词：
D O I：
10.1097/MCD.0000000000000362
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：115 / 119
页数：5
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