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Article

3M syndrome: A Tunisian seven-cases series.

European journal of medical genetics - 1 Mar 2022

Khachnaoui-Zaafrane Khaoula, Ouertani Ines, Zanati Amira, Kandara Hajer, Maazoul Faouzi, Mrad Ridha

Abstract excerpt

3M syndrome (3MS) is a rare autosomal recessive primordial growth disorder characterized by a severe pre- and post-natal growth deficiency, minor dysmorphisms and skeletal abnormalities, contrasting with normal intellect and endocrine function. Three different genes have been so far involved in the disease, with mutations in CUL7, OBSL1 and CCDC8. The CUL7 gene mutations are accountable for 77,5% of the...

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PMID: 35150935
DOI: 10.1016/j.ejmg.2022.104448

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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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