Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Intellectual Disability and ITPR1[original query] |
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Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clinical genetics 2016 Apr . Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone M R, Cusmai R, Tartaglia M, Bertini E, Zanni |
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PloS one 2017 8 12 (8): e0181791. Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh |
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