CNV and nervous system diseases – what’s new?
نویسندگان
چکیده
منابع مشابه
CNV and nervous system diseases--what's new?
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified. Dup(7)(q11.23) patients carry duplications of the genomic region deleted in Williams-Beuren syndrome, they are characterized by prominent speech delay. The phenotypes of Potocki-Lupski syndrome and MECP2 duplica...
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ژورنال
عنوان ژورنال: Cytogenetic and Genome Research
سال: 2008
ISSN: 1424-8581,1424-859X
DOI: 10.1159/000184692