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Article

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

American journal of medical genetics. Part A - 1 Sept 2015

Russell Bianca, Johnston Jennifer J, Biesecker Leslie G, Kramer Nancy, Pickart Angela, Rhead William, Tan Wen-Hann, Brownstein Catherine A, Kate Clarkson L, Dobson Amy, Rosenberg Avi Z, Vergano Samantha A Schrier, Helm Benjamin M, Harrison Rachel E, Graham John M

Abstract excerpt

Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a...

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Source

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Identifiers

PMID: 25921057
DOI: 10.1002/ajmg.a.37131
PMCID: PMC4760347

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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Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.PMID 25921057Read ↗

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