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

页码：1846 / 1849

页数：4

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