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Article

Case report : a novel ASXL3 gene variant in a Sudanese boy.

BMC pediatrics - 9 Dec 2021

Wu Ke, Cong Yan

Abstract excerpt

BACKGROUND: Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, moderate to severe intellectual disability, poor or absent speech, feeding difficulties, growth failure, dysmorphic craniofacial features and minor skeletal features. The aim of this study was to investigate the genetic etiology of a Sudanese...

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Identifiers

PMID: 34886823
DOI: 10.1186/s12887-021-03038-8
PMCID: PMC8655995

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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