MASP1‐related 3MC syndrome in a patient from Turkey - Durmaz, Ceren Damla; Altıner, Şule (American journal of medical genetics. Part A, 2021)
Keywords: 3MC syndrome; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Blepharophimosis; Blepharophimosis - genetics; Blepharophimosis - pathology; Blepharoptosis - genetics; Blepharoptosis - pathology; Cleft Lip - genetics; Cleft Lip - pathology; Cleft Palate - genetics; Cleft Palate - pathology; Collectins - genetics; Craniofacial Abnormalities - genetics; Craniofacial Abnormalities - pathology; Craniosynostoses - genetics; Craniosynostoses - pathology; Eye Abnormalities - genetics; Eye Abnormalities - pathology; facial dysmorphism; Genitourinary tract; Hernia; Humans; Hypertelorism - genetics; Hypertelorism - pathology; Infant; Male; Mannose-Binding Protein-Associated Serine Proteases - genetics; MASP; MASP-1 protein; multiple congenital anomalies; Muscular Atrophy - genetics; Muscular Atrophy - pathology; Nonsense mutation; Physical growth; rare disease; Stop codon; Turkey - epidemiology; Turkey; 3MC syndrome; multiple congenital anomalies; MASP; rare disease; facial dysmorphism