Autosomal recessive mutations of GPR126 are responsible for severe Arthrogryposis multiplex congenita

被引:0
|
作者
Ravenscroft, G. [1 ]
Nolen, F. [2 ]
Rajagopalan, S. [3 ]
Meireles, A. [4 ]
Paavola, K. [4 ]
Gaillard, D. [5 ]
Alanio, E. [5 ]
Buckland, M. [6 ]
Arbuckle, S. [7 ]
Krivanek, M. [7 ]
Maluenda, J. [2 ]
Pannell, S. [1 ]
Gooding, R. [8 ]
Ong, R. [1 ]
Allcock, R. [9 ]
Kok, F. [10 ]
Talbot, W. [11 ]
Melki, J. [2 ]
Laing, N. [1 ]
机构
[1] Harry Perkins Inst Med Res, Nedlands, WA, Australia
[2] Univ Paris South, Unite Mixte Rech, Le Kremlin Bicetre, France
[3] Liverpool Hosp, Dept Clin Genet, Liverpool, NSW, Australia
[4] Stanford Univ, Dept Dev Biol, Stanford, CA 94305 USA
[5] Pol Bouin Lab, Reims, France
[6] Brain & Mind Res Inst, Sydney, NSW, Australia
[7] Childrens Hosp Westmead, Pathol, Westmead, NSW, Australia
[8] Dept Diagnost Genom, PathWest Lab Med, Nedlands, WA, Australia
[9] Univ Western Australia, Lotterywest State Biomed Facil Genom, Nedlands, WA 6009, Australia
[10] Univ Sao Paulo, Human Genome & Stem Cell Res Ctr, Biosci Inst, Sao Paulo, Brazil
[11] Stanford Univ, Dept Clin Genet, Stanford, CA 94305 USA
关键词
D O I
10.1016/j.nmd.2015.06.013
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
G.O.4
引用
收藏
页码:S186 / S186
页数:1
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