Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

European Journal of Human Genetics

Volumn 19, Issue 11, 2011, Pages 1198-1201

  Ghoumid, Jamal ^a   Andrieux, Joris ^a   Sablonnière, Bernard ^a   Odent, Sylvie ^b   Philippe, Nathalie ^a   Zanlonghi, Xavier ^c   Saugier Veber, Pascale ^d   Bardyn, Thomas ^a   Manouvrier Hanu, Sylvie ^a   Holder Espinasse, Muriel ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b RENNES UNIVERSITY HOSPITAL   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

^d ROUEN UNIVERSITY HOSPITAL   (France)

Author keywords

2q31.1q31.2 duplication; HOXD cluster; syndactyly

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME DUPLICATION; CHROMOSOME Q BAND; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE ASSOCIATION; FEMALE; FINGER MALFORMATION; GENE DELETION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; HAND MALFORMATION; HUMAN; HUMAN CELL; LYMPHOBLAST; MALE; NYSTAGMUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SYNDACTYLY;

ADULT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPE; MALE; MULTIGENE FAMILY; NYSTAGMUS, PATHOLOGIC; PHENOTYPE; SYNDACTYLY; TRISOMY;

EID: 80054804272     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.95     Document Type: Article

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