Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh, Shereen G; Becker, Kerstin; Huang, He; Dixon-Salazar, Tracy; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M; Efthymiou, Stephanie; Hanna, Michael G; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmüller, Janine; Nürnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M; Wolf, Nicole I; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G.
Am J Hum Genet; 103(3): 431-439, 2018 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-30100084

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