Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

被引：7
|
作者：
Collet, C. [1 ]
Alessandri, J. -L. [2 ]
Arnaud, E. [3 ]
Balu, M. [4 ]
Daire, V. C. [5 ]
Di Rocco, F. [3 ]
机构：
[1] Hop Lariboisiere, Serv Biochim & Biol Mol, 2 Rue Ambroise Pare, F-75010 Paris, France
[2] CHU Reunion, Hop Felix Guyon, Serv Reanimat Pediat, St Denis, Reunion, France
[3] Hop Necker Enfants Malad, Ctr Reference Natl Dysostoses Craniofaciales, Serv Neurochirurg, Unite Chirurg Craniofaciale, Paris, France
[4] CHU Reunion, Hop Felix Guyon, Serv Radiol Pediat, St Denis, Reunion, France
[5] Univ Paris 05, Sorbonne Paris Cite, Hop Necker, Inst Imagine,Genet Clin,INSERM,U781, Paris, France
来源：
CLINICAL GENETICS | 2014年 / 85卷 / 06期
关键词：
D O I：
10.1111/cge.12213
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：598 / +
页数：2
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