title: MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
authors.affiliation: Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA.
authors.forename: Asli
authors.initials: A
authors.lastname: Sirmaci
authors.forename: Tom
authors.initials: T
authors.lastname: Walsh
authors.forename: Hatice
authors.initials: H
authors.lastname: Akay
authors.forename: Michail
authors.initials: M
authors.lastname: Spiliopoulos
authors.forename: Yıldırım Bayezit
authors.initials: YB
authors.lastname: Sakalar
authors.forename: Aylin
authors.initials: A
authors.lastname: Hasanefendioğlu-Bayrak
authors.forename: Duygu
authors.initials: D
authors.lastname: Duman
authors.forename: Amjad
authors.initials: A
authors.lastname: Farooq
authors.forename: Mary-Claire
authors.initials: MC
authors.lastname: King
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
mesh_terms: D000009:Abdominal Muscles / Q000002:abnormalities; D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000595:Amino Acid Sequence; D001763:Blepharoptosis / Q000235:genetics; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005838:Genotype; D006311:Hearing Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006618:Hip Dislocation, Congenital / Q000235:genetics; D006801:Humans; D050606:Mannose-Binding Protein-Associated Serine Proteases / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012445:Sacrococcygeal Region / Q000002:abnormalities; D013285:Strabismus / Q000235:genetics; D014472:Umbilicus / Q000002:abnormalities
chemical_list: C084067:MASP1 protein, human; D050606:Mannose-Binding Protein-Associated Serine Proteases