Publications

Durmaz CD, Altıner S. MASP1-related 3MC syndrome in a patient from Turkey. Am J Med Genet A. 2021;185(7):2267–2270. PMID: 33765348.

Sirmaci A et al. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet. 2010;87(5):679–686. PMID: 21035106.

Rooryck C et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011;43(3):197–203. PMID: 21258343.

Munye MM et al. COLEC10 is mutated in 3MC patients and regulates early craniofacial development.PLoS Genet. 2017;13(3):e1006679. PMID: 28301481.

Atik T et al. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015;10:128. PMID: 26419238.