Inherited 2q23.1 microdeletions involving the MBD5 locus
نویسندگان
چکیده
منابع مشابه
Inherited 2q23.1 microdeletions involving the MBD5 locus
BACKGROUND Microdeletions of 2q23.1 disrupting MBD5 and loss of function mutations of MBD5 cause MBD5-Associated Neurodevelopmental disorders (MAND). Nearly all reported patients have been isolated cases of de novo origin. METHODS This study investigates three families with inherited MBD5 mutations from three different Regional Genetics Centres in the UK. RESULTS Two of the parents in the s...
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Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. In this issue of EMBO Molecular Medicine, Camarena et al generate an Mbd5 genetrap mouse model and show for the first...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2017
ISSN: 2324-9269
DOI: 10.1002/mgg3.316