Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

被引：17
|
作者：
Barnett, Christopher P. [1 ]
Todd, Emily J. [2 ,3 ]
Ong, Royston [2 ,3 ]
Davis, Mark R. [4 ]
Atkinson, Vanessa [4 ]
Allcock, Richard [5 ,6 ]
Laing, Nigel [2 ,3 ,4 ]
Ravenscroft, Gianina [2 ,3 ]
机构：
[1] SA Pathol, Womens & Childrens Hosp, SA Clin Genet Serv, Pediat & Reprod Genet, Adelaide, SA 5006, Australia
[2] Western Australian Inst Med Res, Nedlands, WA, Australia
[3] Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
[4] PathWest Lab Med WA, Dept Diagnost Genom, Nedlands, WA, Australia
[5] Univ Western Australia, Sch Pathol & Lab Med, Lotterywest State Biomed Facil Genom, Nedlands, WA 6009, Australia
[6] Royal Perth Hosp, Dept Clin Immunol, Pathwest Lab Med WA, Perth, WA 6001, Australia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2014年 / 164卷 / 07期
关键词：
NEURONAL ENDOPEPTIDASE;
D O I：
10.1002/ajmg.a.36342
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：1846 / 1849
页数：4
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