TY  - GEN
AU  - Sirmaci,Asli
AU  - Walsh,Tom
AU  - Akay,Hatice
AU  - Spiliopoulos,Michail
AU  - Sakalar,Yıldırım Bayezit
AU  - Hasanefendioğlu-Bayrak,Aylin
AU  - Duman,Duygu
AU  - Farooq,Amjad
AU  - King,Mary-Claire
AU  - Tekin,Mustafa
TI  - MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes
SN  - 1537-6605
PY  - 2011///0124
KW  - Abdominal Muscles
KW  - abnormalities
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Blepharoptosis
KW  - Child
KW  - Craniofacial Abnormalities
KW  - Craniosynostoses
KW  - Cryptorchidism
KW  - Developmental Disabilities
KW  - Eye Abnormalities
KW  - Face
KW  - Female
KW  - Genotype
KW  - Hearing Disorders
KW  - Heart Defects, Congenital
KW  - Hip Dislocation, Congenital
KW  - Humans
KW  - Mannose-Binding Protein-Associated Serine Proteases
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Sacrococcygeal Region
KW  - Strabismus
KW  - Umbilicus
N1  - Publication Type: Case Reports; Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1016/j.ajhg.2010.09.018
ER  -