Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant

被引：2
|
作者：
Odanaka, Yutaka [1 ]
Ashida, Akira [1 ]
Nemoto, Shintaro [2 ]
Hamanaka, Kohei [3 ]
Matsumoto, Naomichi [3 ]
机构：
[1] Osaka Med & Pharmaceut Univ, Dept Pediat, 2-7 Daigakumachi, Takatsuki, Osaka 5698686, Japan
[2] Osaka Med & Pharmaceut Univ, Dept Thorac & Cardiovasc Surg, Osaka, Japan
[3] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan
来源：
PEDIATRICS INTERNATIONAL | 2022年 / 64卷 / 01期
关键词：
congenital heart diseases; Cornelia de Lange; dilated cardiomyopathy; pulmonary atresia with ventricular septal defect; SMC1A; CARDIOMYOPATHY; MUTATION; PATIENT;
D O I：
10.1111/ped.15031
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页数：2
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