Somatic Mosaicism for the SALL1 Mutation p.Ser371X in Full-Blown Townes-Brocks Syndrome With Duane Anomaly

被引：4
|
作者：
van den Akker, Peter C. [1 ]
van de Graaf, Raoul [2 ]
Dooijes, Dennis [2 ]
van Essen, Anthonie J. [1 ]
机构：
[1] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
[2] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 04期
关键词：
OKIHIRO-SYNDROME; MURINE HOMOLOG; EXPRESSION; GENE; FAMILY;
D O I：
10.1002/ajmg.a.32738
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：812 / 815
页数：4
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