MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. [electronic resource]
Producer: 20110124Description: 679-86 p. digitalISSN:- 1537-6605
- 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
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Publication Type: Case Reports; Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural
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