Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Capra, Valeria ^a   Mirabelli Badenier, Marisol ^a   Stagnaro, Michela ^a   Rossi, Andrea ^a   Tassano, Elisa ^a   Gimelli, Stefania ^b   Gimelli, Giorgio ^a  

^a G GASLINI INSTITUTE   (Italy)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Array CGH; Familial 17p13.3 duplication syndrome; PAFAH1B1 and YWHAE genes

Indexed keywords

ADULT; ALCOHOLISM; ARTICLE; AUTISM; BEHAVIOR DISORDER; BHLHA9 GENE; BIPOLAR DISORDER; BORDERLINE STATE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE REARRANGEMENT; GENETIC IDENTIFICATION; HUMAN; INHERITANCE; MALE; MENTAL DEFICIENCY; PHENOTYPE; SCHOOL CHILD; YWHAE GENE;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; 14-3-3 PROTEINS; AUTISTIC DISORDER; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; CHROMOSOMES, HUMAN, PAIR 17; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; KARYOTYPE; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-CRK;

EID: 84866899287     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-93     Document Type: Article

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