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

页码：115 / 119

页数：5

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