Tuva Barøy Doriana Misceo Petter Strømme Asbjørg Stray-Pedersen Asbjørn Holmgren Olaug Kristin Rødningen Anne Blomhoff Johan Robert Helle Alice Stormyr Bjørn Tvedt Madeleine Fannemel Eirik Frengen
10.1186/1750-1172-8-3
Orphanet J Rare Dis
2013 Jan 7;8:3.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23294540/
Chromosomes, Human, Pair 6 Haploinsufficiency Histones / metabolism Intellectual Disability / genetics Nerve Tissue Proteins / genetics Nuclear Proteins / genetics Polycomb Repressive Complex 2 / genetics
Chromosomes, Human, Pair 6 Haploinsufficiency Histones / metabolism Intellectual Disability / genetics Nerve Tissue Proteins / genetics Nuclear Proteins / genetics Polycomb Repressive Complex 2 / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Ataxin-1 Ataxins Child Child, Preschool Comparative Genomic Hybridization Female Gait Humans Karyotyping Male Real-Time Polymerase Chain Reaction Sequence Deletion ATXN1 protein, human Ataxin-1 Ataxins Histones JARID2 protein, human Nerve Tissue Proteins Nuclear Proteins Polycomb Repressive Complex 2
PMC3675438
23294540
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
2013