Germline mosaicism in a family with MBD5 haploinsufficiency.

Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello DJ, Greally MT, Benson KA.   Abstract Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability,...
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