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Article

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.

Cold Spring Harbor molecular case studies - 1 Jun 2018

Koboldt Daniel C, Mihalic Mosher Theresa, Kelly Benjamin J, Sites Emily, Bartholomew Dennis, Hickey Scott E, McBride Kim, Wilson Richard K, White Peter

Abstract excerpt

Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed...

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Source

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Identifiers

PMID: 29305346
DOI: 10.1101/mcs.a002410
PMCID: PMC5983172

Genes

ASXL3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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