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Article

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.

BMC genomics - 1 Jan 2015

Marshall Christian R, Farrell Sandra A, Cushing Donna, Paton Tara, Stockley Tracy L, Stavropoulos Dimitri J, Ray Peter N, Szego Michael, Lau Lynette, Pereira Sergio L, Cohn Ronald D, Wintle Richard F, Abuzenadah Adel M, Abu-Elmagd Muhammad, Scherer Stephen W

Abstract excerpt

BACKGROUND: We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mi...

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Source

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Identifiers

PMID: 25923536
DOI: 10.1186/1471-2164-16-S1-S12
PMCID: PMC4315153

Genes

OBSL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25923536-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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