Novel FGFR2 Deletion in a Patient With Beare-Stevenson-Like Syndrome

被引：16
|
作者：
Slavotinek, Anne [1 ]
Crawford, Howard [2 ]
Golabi, Mahin [1 ]
Tao, Cathy [3 ]
Perry, Hazel [3 ]
Oberoi, Sneha [3 ]
Vargervik, Karin [3 ]
Friez, Michael [2 ]
机构：
[1] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA
[2] Greenwood Genet Ctr, Greenwood, SC 29646 USA
[3] UCSF, Sch Dent, Dept Orofacial Sci, Div Craniofacial Anomalies, San Francisco, CA USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 08期
关键词：
CUTIS-GYRATA-SYNDROME; MUTATION; GENE; TYR375CYS;
D O I：
10.1002/ajmg.a.32947
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1814 / 1817
页数：4
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