Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

European Journal of Human Genetics

Volumn 21, Issue 4, 2013, Pages 460-464

  Castéra, Laurent ^a   Dehainault, Catherine ^a   Michaux, Dorothée ^a   Lumbroso Le Rouic, Livia ^a   Aerts, Isabelle ^a   Doz, Francois ^a,b   Pelet, Anna ^c   Couturier, Jérôme ^a,d   Stoppa Lyonnet, Dominique ^a,b,d   Gauthier Villars, Marion ^a   Houdayer, Claude ^a,b,d  

^a INSTITUT CURIE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d INSTITUT CURIE   (France)

Author keywords

CGH array; large scale rearrangement; PCDH8; psychomotor delay; RB1; retinoblastoma

Indexed keywords

CADHERIN; PROTOCADHERIN 8; RETINOBLASTOMA PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CELL ADHESION; CHILD; CHROMOSOME NOR; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA FLANKING REGION; FEMALE; GENE DELETION; GENE MAPPING; GENETIC COUNSELING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; MALE; MOLECULAR DIAGNOSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETINOBLASTOMA; SCHOOL CHILD; SIGNAL TRANSDUCTION; TELOMERE;

ADULT; CADHERINS; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DELETION; GENES, RETINOBLASTOMA; HUMANS; INFANT; MALE; MIDDLE AGED; PSYCHOMOTOR DISORDERS; RETINAL NEOPLASMS; RETINOBLASTOMA;

EID: 84875051417     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.186     Document Type: Article

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