Sirmaci, Asli <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2010.09.018  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abdominal Muscles--abnormalities<br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Amino Acid Sequence<br/>Blepharoptosis--genetics<br/>Child<br/>Craniofacial Abnormalities--genetics<br/>Craniosynostoses--genetics<br/>Cryptorchidism--genetics<br/>Developmental Disabilities--genetics<br/>Eye Abnormalities--genetics<br/>Face--abnormalities<br/>Female<br/>Genotype<br/>Hearing Disorders--genetics<br/>Heart Defects, Congenital--genetics<br/>Hip Dislocation, Congenital--genetics<br/>Humans<br/>Mannose-Binding Protein-Associated Serine Proteases--genetics<br/>Molecular Sequence Data<br/>Mutation<br/>Sacrococcygeal Region--abnormalities<br/>Strabismus--genetics<br/>Umbilicus--abnormalities