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

doi:10.1038/ejhg.2016.165

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Article

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

European journal of human genetics : EJHG - 1 Feb 2017

Kuechler Alma, Czeschik Johanna Christina, Graf Elisabeth, Grasshoff Ute, Hüffmeier Ulrike, Busa Tiffany, Beck-Woedl Stefanie, Faivre Laurence, Rivière Jean-Baptiste, Bader Ingrid, Koch Johannes, Reis André, Hehr Ute, Rittinger Olaf, Sperl Wolfgang, Haack Tobias B, Wieland Thomas, Engels Hartmut, Prokisch Holger, Strom Tim M, Lüdecke Hermann-Josef, Wieczorek Dagmar

Abstract excerpt

Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This...

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PMID: 27901041
DOI: 10.1038/ejhg.2016.165
PMCID: PMC5255962

Genes

ASXL3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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