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Article

A novel COLEC10 mutation in a child with 3MC syndrome.

European journal of medical genetics - 1 Dec 2021

Migliorero Martina, Kalantari Silvia, Bracciamà Valeria, Sorbini Monica, Arruga Francesca, Peruzzi Licia, Biamino Elisa, Amoroso Antonio, Vaisitti Tiziana, Deaglio Silvia

Abstract excerpt

3MC syndrome is an autosomal recessive disorder encompassing four rare disorders previously known as the Malpuech, Michels, Mingarelli and Carnevale syndromes. They are characterized by a variable spectrum of abnormalities, including facial dysmorphisms, along with genital, limb and vesico-renal anomalies. The syndrome was originally attributed to mutations in MASP1 and COLEC11, which code for proteins involved...

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Identifiers

PMID: 34740859
DOI: 10.1016/j.ejmg.2021.104374

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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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