Four heterozygous de novo variants in ASXL3 identified with Bainbridge–Ropers syndrome and further dissecting published genotype–phenotype spectrum

Four heterozygous de novo variants in ASXL3 identified with Bainbridge–Ropers syndrome and further dissecting published genotype–phenotype spectrum

Bainbridge–Ropers syndrome (BRPS) is a recently described neurodevelopmental genetic disorder associated with de novo truncating variants in additional sex combs like 3 (ASXL3) on chromosome 18q12.1. Trio-based exome sequencing was conducted on patients admitted to the Children’s Hospital Affiliated...

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Bibliographic Details
Main Authors: Shengjie Ling, Yiming Zhang, Ning Li, Shan Tian, Rui Hu, Dongdong Zhang, Weitong Guo
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Neuroscience
Subjects:
Bainbridge–Ropers syndrome
ASXL3
intellectual disabilities
nonsense variant
whole exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2024.1456433/full
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https://www.frontiersin.org/articles/10.3389/fnins.2024.1456433/full

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