DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant robinow syndrome

American Journal of Human Genetics

Volumn 96, Issue 4, 2015, Pages 612-622

  White, Janson ^a   Mazzeu, Juliana F ^b,c   Hoischen, Alexander ^d   Jhangiani, Shalini N ^a   Gambin, Tomasz ^a,e   Alcino, Michele Calijorne ^f   Penney, Samantha ^a   Saraiva, Jorge M ^g,h   Hove, Hanne ⁱ   Skovby, Flemming ⁱ   Kayserili, Hülya ^j,k   Estrella, Elicia ^l   Vulto Van Silfhout, Anneke T ^d   Steehouwer, Marloes ^d   Muzny, Donna M ^a   Sutton, V Reid ^a,m   Gibbs, Richard A ^a   Lupski, James R ^a,m   Brunner, Han G ^d,n   Van Bon, Bregje W M ^d   Carvalho, Claudia M B ^a,f   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSIDADE CATÓLICA DE BRASÍLIA   (Brazil)

^c Robinow Syndrome Foundation   (United States)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e WARSAW UNIVERSITY OF TECHNOLOGY   (Poland)

^f INSTITUTO OSWALDO CRUZ   (Brazil)

^g CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^h UNIVERSITY OF COIMBRA   (Portugal)

ⁱ UNIVERSITY OF COPENHAGEN   (Denmark)

^j ISTANBUL UNIVERSITY   (Turkey)

^k KOÇ UNIVERSITY   (Turkey)

^l BOSTON CHILDREN S HOSPITAL   (United States)

^m TEXAS CHILDREN S HOSPITAL   (United States)

ⁿ MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DISHEVELLED 1; MESSENGER RNA; WNT5A PROTEIN; DISHEVELLED PROTEINS; PHOSPHOPROTEIN; PRIMER DNA; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CHILD; CHROMOSOME 1; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; ELECTROPHORESIS; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE CLUSTER; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MONOZYGOTIC TWINS; NONSENSE MEDIATED MRNA DECAY; PARENT; PRESCHOOL CHILD; PRIORITY JOURNAL; ROBINOW SYNDROME; SCHOOL CHILD; WILD TYPE; YOUNG ADULT; AMINO ACID SEQUENCE; CRANIOFACIAL MALFORMATION; DNA SEQUENCE; DWARFISM; GENE STRUCTURE; GENETICS; LIMB MALFORMATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; UROGENITAL TRACT MALFORMATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; BASE SEQUENCE; CRANIOFACIAL ABNORMALITIES; DNA PRIMERS; DWARFISM; EXOME; EXONS; FRAMESHIFT MUTATION; GENE COMPONENTS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MOLECULAR SEQUENCE DATA; PHOSPHOPROTEINS; SEQUENCE ANALYSIS, DNA; UROGENITAL ABNORMALITIES;

EID: 84926250106     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.02.015     Document Type: Article

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