A splice-site variant in ANKRD11 associated with classical KBG syndrome

被引：5
|
作者：
Low, Karen J. [1 ]
Hills, Alison [2 ]
Williams, Maggie [2 ]
Duff-Farrier, Celia [2 ]
McKee, Shane [3 ]
Smithson, Sarah F. [1 ]
机构：
[1] Univ Hosp Bristol NHS Trust, Bristol, Avon, England
[2] North Bristol NHS Trust, Bristol Genet Lab, Bristol, Avon, England
[3] Belfast HSC Trust, Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 10期
关键词：
MUTATIONS;
D O I：
10.1002/ajmg.a.38397
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2844 / 2846
页数：3
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