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"2q23.1" microduplication syndrome
Did you mean "2q23.1" "micro duplication" syndrome?
- ... parent with the condition. 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, ...
- ... MAND are known as 2q23.1 microdeletions or 2q23.1 microduplications. The deleted or duplicated segment varies in size ... Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of ...