Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

American Journal of Human Genetics

Volumn 86, Issue 2, 2010, Pages 254-261

  Iqbal, Zafar ^a   Cejudo Martin, Pilar ^c   de Brouwer, Arjan ^a   van der Zwaag, Bert ^d   Ruiz Lozano, Pilar ^c   Scimia, M Cecilia ^c   Lindsey, James D ^e   Weinreb, Robert ^e   Albrecht, Beate ^f   Megarbane, Andre ^g   Alanay, Yasemin ^h   Ben Neriah, Ziva ⁱ   Amenduni, Mariangela ^j   Artuso, Rosangela ^j   Veltman, Joris A ^a   van Beusekom, Ellen ^a   Oudakker, Astrid ^a,b   Millán, José Luis ^c   Hennekam, Raoul ^k,l   Hamel, Ben ^a   Courtneidge, Sara A ^c   van Bokhoven, Hans ^a,b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c BURNHAM INSTITUTE   (United States)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF DUISBURG ESSEN   (Germany)

^g SAINT JOSEPH UNIVERSITY   (Lebanon)

^h HACETTEPE UNIVERSITY   (Turkey)

ⁱ HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^j UNIVERSITY OF SIENA   (Italy)

^k ACADEMIC MEDICAL CENTER   (Netherlands)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ADAPTOR PROTEIN; PODOSOME ADAPTOR PROTEIN TKS4; PROTEIN SH3; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CELL MIGRATION; CHROMOSOME 5Q; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; ENZYME SPECIFICITY; EYE MALFORMATION; FAMILY; FEMALE; FRANK TER HAAR SYNDROME; GENE DELETION; GENE DISRUPTION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; HOMOZYGOSITY; HUMAN; HYPERTELORISM; INFANT; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FUNCTION; RISK FACTOR; SEQUENCE HOMOLOGY; SRC HOMOLOGY DOMAIN;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; ANIMALS; CHILD, PRESCHOOL; CHROMOSOME MAPPING; EYE ABNORMALITIES; FEMALE; GENE SILENCING; HEART DEFECTS, CONGENITAL; HOMOZYGOTE; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUSCULOSKELETAL ABNORMALITIES; MUTATION; PHOSPHOLIPID TRANSFER PROTEINS; SYNDROME;

MUS;

EID: 76049088520     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.01.009     Document Type: Article

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