TheMEF2C-Related and 5q14.3q15 Microdeletion Syndrome
نویسندگان
چکیده
منابع مشابه
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
Disorders related to the autosomal transcription factor MEF2C located in 5q14.3 were first described in 2009 and have since evolved to one of the more common microdeletion syndromes. Mutational screening in a larger cohort revealed heterozygous de novo mutations of MEF2C in about 1% of patients with moderate to severe intellectual disability, and the phenotype is similar in patients with intrag...
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UNLABELLED The chromosome 15q13.3 microdeletion is a pathogenic copy number variation conferring epilepsy, intellectual disability, schizophrenia, and autism spectrum disorder (ASD). We generated mice carrying a deletion of 1.2 Mb homologous to the 15q13.3 microdeletion in human patients. Here, we report that mice with a heterozygous deletion on a C57BL/6 background (D/+ mice) demonstrated phen...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2011
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000337496