DVL3 Alleles Resulting in a-1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

American Journal of Human Genetics

Volumn 98, Issue 3, 2016, Pages 553-561

  White, Janson J ^a   Mazzeu, Juliana F ^b,c   Hoischen, Alexander ^d   Bayram, Yavuz ^a   Withers, Marjorie ^a   Gezdirici, Alper ^e   Kimonis, Virginia ^f   Steehouwer, Marloes ^d   Jhangiani, Shalini N ^a   Muzny, Donna M ^a   Gibbs, Richard A ^a   Van Bon, Bregje W M ^d   Sutton, V Reid ^a,g   Lupski, James R ^a,g   Brunner, Han G ^d,h   Carvalho, Claudia M B ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF BRASILIA   (Brazil)

^c Robinow Syndrome Foundation   (United States)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Kanuni Sultan Suleyman Education and Research Hospital   (Turkey)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

^h MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DISHEVELLED 1; DISHEVELLED 2; DISHEVELLED 3; PROTEIN; ROR2 PROTEIN; UNCLASSIFIED DRUG; WNT5A PROTEIN; DISHEVELLED PROTEIN; DVL1 PROTEIN, HUMAN; DVL2 PROTEIN, HUMAN; DVL3 PROTEIN, HUMAN; ONCOPROTEIN; PHOSPHOPROTEIN; RECEPTOR TYROSINE KINASE LIKE ORPHAN RECEPTOR; ROR2 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; STOP CODON; WNT PROTEIN; WNT5A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELLULAR DISTRIBUTION; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; DISEASE ASSOCIATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE LOCATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; MOLECULAR DIAGNOSIS; NONHUMAN; PRIORITY JOURNAL; ROBINOW SYNDROME; CRANIOFACIAL ABNORMALITIES; DNA SEQUENCE; DWARFISM; GENETIC VARIATION; GENETICS; LIMB DEFORMITIES, CONGENITAL; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; STOP CODON; UROGENITAL ABNORMALITIES;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; BASE SEQUENCE; CODON, NONSENSE; CRANIOFACIAL ABNORMALITIES; DISHEVELLED PROTEINS; DWARFISM; EXONS; FEMALE; FRAMESHIFT MUTATION; GENETIC VARIATION; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; PHOSPHOPROTEINS; PROTO-ONCOGENE PROTEINS; RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTORS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; UROGENITAL ABNORMALITIES; WNT PROTEINS; WNT-5A PROTEIN;

EID: 84960075536     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.01.005     Document Type: Article

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