A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities

A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities

Background: Autosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). To date, 39 patients from 17 families with CC2D1A -re...

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Bibliographic Details
Main Authors: Sheng Yi, Xianglian Tang, Qiang Zhang, Yu Liang, Jing Huang, Shujie Zhang, Limei Huang, Shang Yi, Minpan Huang, Zailong Qin, Jingsi Luo
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
CC2D1A
Autism spectrum disorder
Intellectual disability
Motor delay
Hypotonia
Novel variants
Online Access:http://www.sciencedirect.com/science/article/pii/S240584402403977X

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http://www.sciencedirect.com/science/article/pii/S240584402403977X

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