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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Am J Hum Genet 98:981-992 (2016)
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Gerber S, Alzayady KJ, Burglen L, Bremond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Heron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Am J Hum Genet 98:971-980 (2016)
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Nabih O, Hamdani H, ELMaaloum L, Allali B, ELkettani A

Gillespie syndrome: An atypical form and review of the literature.

Ann Med Surg (Lond) 74:103244 (2022)
DOI:10.1016/j.amsu.2022.103244