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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Principais autores:	Shengjie Ling, Yiming Zhang, Ning Li, Shan Tian, Rui Hu, Dongdong Zhang, Weitong Guo
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2024-11-01
Series:	Frontiers in Neuroscience
Assuntos:	Bainbridge–Ropers syndrome ASXL3 intellectual disabilities nonsense variant whole exome sequencing
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fnins.2024.1456433/full
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