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Article

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

American journal of human genetics - 1 Jun 2009

Hanson Dan, Murray Philip G, Sud Amit, Temtamy Samia A, Aglan Mona, Superti-Furga Andrea, Holder Sue E, Urquhart Jill, Hilton Emma, Manson Forbes D C, Scambler Peter, Black Graeme C M, Clayton Peter E

Abstract excerpt

3-M syndrome is an autosomal-recessive primordial growth disorder characterized by significant intrauterine and postnatal growth restriction. Mutations in the CUL7 gene are known to cause 3-M syndrome. In 3-M syndrome patients that do not carry CUL7 mutations, we performed high-density genome-wide SNP mapping to identify a second locus at 2q35-q36.1. Further haplotype analysis revealed a 1.29 Mb interval in which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19481195
DOI: 10.1016/j.ajhg.2009.04.021
PMCID: PMC2694976

Genes

OBSL1
CUL7

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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