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"2q23.1" microdeletion syndrome
- ... Vries BB, Gusella JF, Elsea SH. 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. ... regulator responsible for 2q23.1 deletion syndrome. Rare Dis. 2014 Nov 3;2( ...