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Article

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

PLoS genetics - 1 Mar 2017

Munye Mustafa M, Diaz-Font Anna, Ocaka Louise, Henriksen Maiken L, Lees Melissa, Brady Angela, Jenkins Dagan, Morton Jenny, Hansen Soren W, Bacchelli Chiara, Beales Philip L, Hernandez-Hernandez Victor

Abstract excerpt

3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene,...

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Source

Open in PubMed Open full text

Identifiers

PMID: 28301481
DOI: 10.1371/journal.pgen.1006679
PMCID: PMC5373641

Genes

COLEC10
COLEC11
MASP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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COLEC10 is mutated in 3MC patients and regulates early craniofacial development.PMID 28301481Read ↗

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