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Article

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.

Clinical endocrinology - 1 Sept 2012

Clayton Peter E, Hanson Dan, Magee Lucia, Murray Philip G, Saunders Emma, Abu-Amero Sayeda N, Moore Gudrun E, Black Graeme C M

Abstract excerpt

3-M syndrome is an autosomal recessive primordial growth disorder characterized by small birth size and post-natal growth restriction associated with a spectrum of minor anomalies (including a triangular-shaped face, flat cheeks, full lips, short chest and prominent fleshy heels). Unlike many other primordial short stature syndromes, intelligence is normal and there is no other major system involvement,...

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Source

Identifiers

PMID: 22624670
DOI: 10.1111/j.1365-2265.2012.04428.x

Genes

CUL7
OBSL1
CCDC8

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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Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.PMID 22624670Read ↗

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