Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
نویسندگان
چکیده
منابع مشابه
Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
Structural chromosomal rearrangements can lead to a wide variety of serious clinical manifestations, including mental retardation (MR) and congenital malformations. Over the last few years, rearrangements below the detection level of conventional karyotyping have been proved to contribute significantly to the cause of MR. These so-called copy number variations are now routinely being detected u...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2009
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.2009.072942