Getting to the bottom of autism spectrum and related disorders: MBD5 as a key contributor.
نویسنده
چکیده
1. Talkowski ME, Mullegama SV, Rosenfeld JA et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet 2011: 89: 551–563. 2. van Bon BW, Koolen DA, Brueton L et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet 2010: 18: 163–170. 3. Laget S, Joulie M, Le Masson F et al. The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA. PLoS One 2010: 5: e11982.
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ورودعنوان ژورنال:
- Clinical genetics
دوره 81 4 شماره
صفحات -
تاریخ انتشار 2012