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Article

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

American journal of medical genetics. Part A - 1 Jun 2026

Çetinkaya Duygu, Çavdarlı Büşranur, Kırat Emre, Kılıç Esra

Abstract excerpt

3MC syndrome is a rare congenital malformation disorder caused by biallelic pathogenic variants in COLEC10, COLEC11, and MASP1. It is characterized by distinctive craniofacial anomalies, growth retardation, developmental delay, and variable systemic findings. Here, we report seven previously unreported patients with 3MC syndrome from five unrelated families. The cohort included five females and two males, aged...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41703727
DOI: 10.1002/ajmg.a.70087

Genes

COLEC10
MASP1
COLEC11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.PMID 41703727Read ↗

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