A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome

被引：8
作者：
Arunachal, Gautham [1 ]
Danda, Sumita [1 ]
Omprakash, Sabita [1 ]
Kumar, Sathish [2 ]
机构：
[1] MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, India
[2] MGR Univ, Dept Paediat, Christian Med Coll, Vellore, Tamil Nadu, India
来源：
CLINICAL DYSMORPHOLOGY | 2016年 / 25卷 / 03期
关键词：
D O I：
10.1097/MCD.0000000000000126
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：101 / 105
页数：5
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