De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature
Author:
Affiliation:
1. Affiliated Shenzhen Maternity & Child Healthcare Hospital Southern Medical University Shenzhen China
2. The University of Hong Kong‐Shenzhen Hospital Shenzhen Shenzhen China
Funder
Science, Technology and Innovation Commission of Shenzhen Municipality
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1924
Reference35 articles.
1. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1
2. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
3. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients withde novo, heterozygous, loss-of-function mutations inASXL3and review of published literature
4. Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3
5. Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome
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