Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201635.pdf
Reference33 articles.
1. Jaillard S, Dubourg C, Gerard-Blanluet M et al: 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? J Med Genet 2009; 46: 847–855.
2. 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.
3. Mullegama SV, Rosenfeld JA, Orellana C et al: Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet 2014; 22: 57–63.
4. Noh GJ, Graham JM Jr : 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features. Eur J Med Genet 2012; 55: 59–62.
5. 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.
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