Am J Med Genet A 2020 07 22;182(7):1812-1814. Epub 2020 May 22.
Division of Maternal Fetal Medicine, School of Medicine, The Johns Hopkins University, Baltimore, Maryland, USA.
3MC syndromes are rare heterogeneous autosomal recessive conditions previously designated as Mingarelli, Malpuech, Michels, and Carnevale syndromes, characterized by dysmorphic facial features, facial clefts, growth restriction, and intellectual disability. 3MC is secondary to mutations in the MASP1, MASP3, COLEC11, and COLEC10 genes. The number of patients with 3MC syndrome with known mutations in the COLEC11 or MASP1 is, to date, less than 50. Read More