Germline mosaicism in a family with MBD5 haploinsufficiency
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DOI: 10.1101/mcs.a006253
Abstract: Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause… read more here.
Keywords: mbd5 haploinsufficiency; germline mosaicism; family; haploinsufficiency ... See more keywords