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

页码：1 / 3

页数：3

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