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Article

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.

American journal of medical genetics. Part A - 1 Aug 2025

Elsayed Shaymaa, Elmakkawy Gehad A, Abdelrazek Ibrahim M, Fawzy Dina A, Kim JiHye, Song YongJun, Omar Omneya M, Abdalla Ebtesam M

Abstract excerpt

3M syndrome is a rare autosomal recessive disorder characterized by short stature and recognizable facial and musculoskeletal features. Pathogenic variants in the CUL7, OBSL1, and CCDC8 genes are implicated in the pathogenesis of 3M syndrome. In this review, we discuss the history, epidemiology, molecular basis, clinical features, and management strategies for 3M syndrome. Moreover, we report on 11 new patients...

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Identifiers

PMID: 40135784
DOI: 10.1002/ajmg.a.64068

Genes

CCDC8
CUL7
OBSL1

Provenance

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An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.PMID 40135784Read ↗

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

3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.Semantic proximity Read ↗

Clinical and Molecular Spectrum Along With Genotype-Phenotype Correlation of 25 Patients Diagnosed With 3M Syndrome: A Study from TurkeySemantic proximity Read ↗

A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.Semantic proximity Read ↗

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