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Article

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

American journal of medical genetics. Part A - 1 Jul 2016

Hori Ikumi, Miya Fuyuki, Ohashi Kei, Negishi Yutaka, Hattori Ayako, Ando Naoki, Okamoto Nobuhiko, Kato Mitsuhiro, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Saitoh Shinji

Abstract excerpt

Bainbridge-Ropers syndrome (BRPS) is characterized by severe developmental delay, feeding problems, short stature, characteristic facal appearance including arched eyebrows and anteverted nares, and ulnar deviation of the hands. BRPS is caused by a heterozygous mutation in the additional sex combs-like 3 (ASXL3) gene. We describe a patient with severe developmental delay, feeding problems, short stature, autism,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27075689
DOI: 10.1002/ajmg.a.37653

Genes

ASXL3
ASXL1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.PMID 27075689Read ↗

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