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Article

Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3.

Neurologia - 1 Sept 2018

Contreras-Capetillo S N, Vilchis-Zapata Z H, Ribbón-Conde J, Pinto-Escalante D

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Source

Identifiers

PMID: 28431838
DOI: 10.1016/j.nrl.2017.01.022

Genes

ASXL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3.PMID 28431838Read ↗

ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.Semantic proximity Read ↗

De Novo Nonsense Variant in ASXL3 in a Chinese Girl Causing Bainbridge–Ropers Syndrome: A Case Report and Review of LiteratureSemantic proximity Read ↗

[Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review].Semantic proximity Read ↗

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.Semantic proximity Read ↗

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.Semantic proximity Read ↗

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.Semantic proximity Read ↗

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.Semantic proximity Read ↗

Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.Semantic proximity Read ↗

[Report of a child with Bainbridge-Ropers syndrome due to a novel variant of ASXL3 gene and a literature review].Semantic proximity Read ↗

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.Semantic proximity Read ↗

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.Semantic proximity Read ↗

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.Semantic proximity Read ↗

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