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 ; Weixler, Lisa ; 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.

American journal of human genetics, 2018-09, Vol.103 (3), p.431-439 [Periódico revisado por pares]

United States: Elsevier Inc

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