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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Among authors: van heyningen v. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
The human PAX6 gene is mutated in two patients with aniridia.
Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V. Jordan T, et al. Among authors: van heyningen v. Nat Genet. 1992 Aug;1(5):328-32. doi: 10.1038/ng0892-328. Nat Genet. 1992. PMID: 1302030
Mouse mutations and human disorders are paired.
Hill R, Van Heyningen V. Hill R, et al. Among authors: van heyningen v. Trends Genet. 1992 Apr;8(4):119-20. doi: 10.1016/0168-9525(92)90359-C. Trends Genet. 1992. PMID: 1631953 Review. No abstract available.
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