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...

Description complète

Détails bibliographiques

Auteurs principaux:	Shengjie Ling, Yiming Zhang, Ning Li, Shan Tian, Rui Hu, Dongdong Zhang, Weitong Guo
Format:	Artigo
Langue:	Inglês
Publié:	Frontiers Media S.A. 2024-11-01
Collection:	Frontiers in Neuroscience
Sujets:	Bainbridge–Ropers syndrome ASXL3 intellectual disabilities nonsense variant whole exome sequencing
Accès en ligne:	https://www.frontiersin.org/articles/10.3389/fnins.2024.1456433/full
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!