- Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disabilityTuva Barøy
Department of Medical Genetics, University of Oslo, P, O, Box 1036, Blindern, Oslo N 0315, Norway
Orphanet J Rare Dis 8:3. 2013..Heterogeneous deletion breakpoints and sizes (1-17 Mb) and overlapping phenotypes have made the identification of the disease causing genes challenging. We suggest JARID2 and ATXN1, both harbored in 6p22.3, as disease causing genes...