Familial recurrence of 3MC syndrome in consanguineous families: A clinical and molecular diagnostic approach with review of the literature

Cleft Palate-Craniofacial Journal

Volumn 54, Issue 6, 2017, Pages 739-748

  Gardner, Olivia K ^a   Haynes, Karla ^a   Schweitzer, Daniela ^a   Johns, Alexis ^b   Magee, William P ^b   Urata, Mark M ^a,b,c   Sanchez Lara, Pedro A ^a,b  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c Assoc Prof of Surge at USC   (United States)

Author keywords

Cleft lip and palate; Genetics; Microarray; Molecular diagnostics; Syndromic orofacial clefting

Indexed keywords

3MC SYNDROME; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BILATERAL CLEFT LIP; BROTHER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHROMOSOME ANALYSIS; CLEFT LIP PALATE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COLEC11 GENE; CONSANGUINEOUS MARRIAGE; CRANIOFACIAL MALFORMATION; FAMILIAL DISEASE; FEMALE; FIRST COUSIN; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERNASALITY; MALE; MASP1 GENE; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSIS; NOSE MALFORMATION; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; RECURRENT DISEASE; SISTER; SOFTWARE; UNILATERAL CLEFT LIP; YOUNG ADULT; ABDOMINAL WALL MUSCULATURE; ABNORMALITIES; CONGENITAL HEART MALFORMATION; CONGENITAL HIP DISLOCATION; CONSANGUINITY; CRANIOFACIAL SYNOSTOSIS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; EYE MALFORMATION; GENE DELETION; GENETICS; MULTIPLE MALFORMATION SYNDROME; PTOSIS; RISK FACTOR; STRABISMUS;

COLLECTIN; COLLECTIN CL-K1, HUMAN; MANNAN BINDING LECTIN ASSOCIATED SERINE PROTEINASE; MASP1 PROTEIN, HUMAN;

ABDOMINAL MUSCLES; ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BLEPHAROPTOSIS; COLLECTINS; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; CRYPTORCHIDISM; DEVELOPMENTAL DISABILITIES; EYE ABNORMALITIES; FEMALE; GENE DELETION; HEART DEFECTS, CONGENITAL; HIP DISLOCATION, CONGENITAL; HUMANS; MALE; MANNOSE-BINDING PROTEIN-ASSOCIATED SERINE PROTEASES; PAKISTAN; RISK FACTORS; STRABISMUS;

EID: 85032869295     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/15-151     Document Type: Article

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