12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

European Journal of Human Genetics

Volumn 21, Issue 1, 2013, Pages 82-88

  Thevenon, Julien ^a   Callier, Patrick ^b   Andrieux, Joris ^c   Delobel, Bruno ^d   David, Albert ^e   Sukno, Sylvie ^d   Minot, Delphine ^a   Mosca Anne, Laure ^b   Marle, Nathalie ^b   Sanlaville, Damien ^f   Bonnet, Marlène ^a   Masurel Paulet, Alice ^a   Levy, Fabienne ^a   Gaunt, Lorraine ^g   Farrell, Sandra ^h   Le Caignec, Cédric ^e,i   Toutain, Annick ^j   Carmignac, Virginie ^k   Mugneret, Francine ^b   Clayton Smith, Jill ^g   Thauvin Robinet, Christel ^a,k   Faivre, Laurence ^a,k   more..

^a Medical University of Dijon   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h CREDIT VALLEY HOSPITAL   (Canada)

ⁱ L INSTITUT DU THORAX   (France)

^j CHU BRETONNEAU   (France)

^k UNIVERSITÉ DE BOURGOGNE   (France)

more..

Author keywords

12p13.33; array CGH; childhood apraxia of speech (CAS); ELKS ERC1 gene; inherited deletion; speech delay

Indexed keywords

ERC1 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

APRAXIA; ARTICLE; CHILD; CHILDHOOD APRAXIA OF SPEECH; CHROMOSOME 12P; CLINICAL ARTICLE; COGNITION; COMPARATIVE GENOMIC HYBRIDIZATION; DATA BASE; DISEASE ASSOCIATION; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENE REARRANGEMENT; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DISEASE; MICRODELETION; OCCUPATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH THERAPIST; TELOMERE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; APRAXIAS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; FAMILY; FEMALE; FRANCE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LANGUAGE DEVELOPMENT DISORDERS; MALE; NERVE TISSUE PROTEINS; PREGNANCY; SPEECH;

EID: 84871249450     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.116     Document Type: Article

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