MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Sirmaci, Asli

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. [electronic resource] - American journal of human genetics Nov 2010 - 679-86 p. digital

Publication Type: Case Reports; Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural

1537-6605

10.1016/j.ajhg.2010.09.018 doi


Abdominal Muscles--abnormalities
Abnormalities, Multiple--genetics
Adolescent
Amino Acid Sequence
Blepharoptosis--genetics
Child
Craniofacial Abnormalities--genetics
Craniosynostoses--genetics
Cryptorchidism--genetics
Developmental Disabilities--genetics
Eye Abnormalities--genetics
Face--abnormalities
Female
Genotype
Hearing Disorders--genetics
Heart Defects, Congenital--genetics
Hip Dislocation, Congenital--genetics
Humans
Mannose-Binding Protein-Associated Serine Proteases--genetics
Molecular Sequence Data
Mutation
Sacrococcygeal Region--abnormalities
Strabismus--genetics
Umbilicus--abnormalities