%0 Journal Article
%T 3MC syndrome: A case report
%A Seda £¿akmakl£¿
%J -
%D 2019
%X 3MC syndrome is a rare autosomal recessive disorder associated with distinctive facial features, cleft lip/palate, short stature, developmental delay, periumbilical defects, genitourinary and sacral anomalies. Mutations in the genes which encode proteins involved in the lectin complement pathway of innate immune system; MASP1, COLEC11 and COLEC10 have been identified in patients with 3MC syndrome. We report a 2-year-old male patient with 3MC syndrome; in whom diagnosis was confirmed by mutation analysis of the MASP1 gene
%K 3MC sendromu
%K MASP1
%K COLEC11
%K COLEC10
%K blefaroptozis
%K epikantus inversus
%U http://dergipark.org.tr/acem/issue/47515/505975