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Results 1 - 3 of 3 for "2q23.1" microdeletion syndrome
  1. MBD5-associated neurodevelopmental disorder 
    ... or gene from a parent with the condition. 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome MAND MBD5 haploinsufficiency Genetic ... Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of ...
    https://medlineplus.gov/...d5-associated-neurodevelopmental-disorder - Genetics
  2. MBD5 gene 
    ... 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( ...
    https://medlineplus.gov/genetics/gene/mbd5 - Genetics
  3. Chromosome 2 
    ... Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics