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Article

Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.

American journal of medical genetics. Part A - 1 May 2018

Bedoukian Emma, Copenheaver Deborah, Bale Sherri, Deardorff Matthew

Abstract excerpt

Bohring-Opitz syndrome (BOS) is characterized clinically by severe developmental delays, microcephaly, failure to thrive, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others). Most patients meeting the clinical criteria for BOS (MIM: 605039) have a de novo nonsense or frameshift variant in ASXL1. We report a case of BOS caused by a pathogenic ASXL1 variant inherited...

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Source

Identifiers

PMID: 29681100
DOI: 10.1002/ajmg.a.38686

Genes

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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