Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

European Journal of Human Genetics

Volumn 21, Issue 4, 2013, Pages 361-365

  Newbury, Dianne F ^a   Mari, Francesca ^b,c   Sadighi Akha, Elham ^a,d   MacDermot, Kay D ^e   Canitano, Roberto ^c   Monaco, Anthony P ^a   Taylor, Jenny C ^a,d   Renieri, Alessandra ^b,c   Fisher, Simon E ^a,f,g   Knight, Samantha J L ^a,d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF SIENA   (Italy)

^c UNIVERSITY HOSPITAL OF SIENA   (Italy)

^d NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

^e IMPERIAL COLLEGE LONDON   (United Kingdom)

^f MAX PLANCK INSTITUTE FOR PSYCHOLINGUISTICS   (Netherlands)

^g RADBOUD UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR FOXP2;

ADOLESCENT; APRAXIA; AUTISM; BODY MASS; CASE REPORT; CHILDHOOD DISEASE; CHROMOSOME 16P; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME BAND; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; MACROCEPHALY; MALE; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSOCIAL WITHDRAWAL; SPEECH DISORDER;

APRAXIAS; CHROMOSOMES, HUMAN, PAIR 16; HUMANS; SEQUENCE DELETION;

EID: 84875053427     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.166     Document Type: Letter

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