A case of White-Sutton syndrome with previously described loss-of-function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome

被引：5
作者：
Dal, Sameer [1 ]
Hopper, Bruce [2 ]
du Chattel, Maureen Van Rossum [2 ]
Goel, Himanshu [1 ]
机构：
[1] Hunter New England Local Hlth Dist, Hunter Genet, Waratah, NSW, Australia
[2] Manning Base Hosp, Genet Counselling Serv, Dept Paediat, Taree, NSW, Australia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2021年 / 185卷 / 03期
关键词：
SPECTRUM;
D O I：
10.1002/ajmg.a.62042
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1006 / 1007
页数：2
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