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

BACKGROUND: Nineteen patients with deletions in chromosome 6p22-p24 have been published so far. The syndromic phenotype is varied, and includes intellectual disability, behavioural abnormalities, dysmorphic features and structural organ defects. Heterogeneous deletion breakpoints and sizes (1–17 Mb)...

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Hlavní autoři: Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug Kristin, Blomhoff, Anne, Helle, Johan Robert, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
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Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675438/
https://ncbi.nlm.nih.gov/pubmed/23294540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-3
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