The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome

被引：0
|
作者：
Barbour, Kristen [1 ,2 ]
Friedman, Jennifer [2 ,3 ,4 ]
Bird, Lynne M. [1 ,2 ]
Del Campo, Miguel [1 ,2 ]
Wigby, Kristen [1 ,2 ]
Jones, Marilyn [1 ,2 ]
Chong, Amy [2 ,4 ]
Grinspan, Zachary M. [5 ]
机构：
[1] Univ Calif San Diego, Dept Pediat, Div Genet & Dysmorphol, San Diego, CA USA
[2] Rady Childrens Hosp, San Diego, CA USA
[3] Univ Calif San Diego, Dept Neurosci, La Jolla, CA USA
[4] Univ Calif San Diego, Dept Pediat, San Diego, CA USA
[5] Weill Cornell Med, Dept Pediat, Div Child Neurol, New York, NY USA
来源：
PEDIATRIC NEUROLOGY | 2025年 / 164卷
关键词：
Monogenetic; Epidemiology; Incidence; Genetic; Developmental delay; Neurodevelopmental disorder; Whole genome sequencing; RETT-SYNDROME;
D O I：
10.1016/j.pediatrneurol.2024.12.005
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1 / 3
页数：3
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