MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of carnevale, malpuech, OSA, and michels syndromes

American Journal of Human Genetics

Volumn 87, Issue 5, 2010, Pages 679-686

  Sirmaci, Asli ^a   Walsh, Tom ^b   Akay, Hatice ^c   Spiliopoulos, Michail ^a   Şakalar, Yildirim Bayezit ^d   Hasanefendioǧlu Bayrak, Aylin ^d   Duman, Duygu ^e   Farooq, Amjad ^a   King, Mary Claire ^b   Tekin, Mustafa ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c Veni Vidi Hospital   (Turkey)

^d DICLE UNIVERSITY   (Turkey)

^e ANKARA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

MANNAN BINDING LECTIN ASSOCIATED SERINE PROTEINASE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARNEVALE SYNDROME; CASE REPORT; CHILD; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALPUECH SYNDROME; MICHELS SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SYNDROME; TURKEY (REPUBLIC);

ABDOMINAL MUSCLES; ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; BLEPHAROPTOSIS; CHILD; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; CRYPTORCHIDISM; DEVELOPMENTAL DISABILITIES; EYE ABNORMALITIES; FACE; FEMALE; GENOTYPE; HEARING DISORDERS; HEART DEFECTS, CONGENITAL; HIP DISLOCATION, CONGENITAL; HUMANS; MANNOSE-BINDING PROTEIN-ASSOCIATED SERINE PROTEASES; MOLECULAR SEQUENCE DATA; MUTATION; SACROCOCCYGEAL REGION; STRABISMUS; UMBILICUS;

EID: 78249275859     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.09.018     Document Type: Article

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