Madeleine Fannemel

Summary

Publications

  1. pmc Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
    Tuva Barøy
    Department of Medical Genetics, University of Oslo, P, O, Box 1036, Blindern, Oslo N 0315, Norway
    Orphanet J Rare Dis 8:3. 2013

Detail Information

Publications1

  1. pmc Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
    Tuva 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...