Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Am J Hum Genet
.
2021 Dec 2;108(12):2385.
doi: 10.1016/j.ajhg.2021.11.013.
Authors
Shereen G Ghosh
,
Kerstin Becker
,
He Huang
,
Tracy D Salazar
,
Guoliang Chai
,
Vincenzo Salpietro
,
Lihadh Al-Gazali
,
Quinten Waisfisz
,
Haicui Wang
,
Keith K Vaux
,
Valentina Stanley
,
Andreea Manole
,
Ugur Akpulat
,
Marjan M Weiss
,
Stephanie Efthymiou
,
Michael G Hanna
,
Carlo Minetti
,
Pasquale Striano
,
Livia Pisciotta
,
Elisa De Grandis
,
Janine Altmüller
,
Lisa Weixler
,
Peter Nürnberg
,
Holger Thiele
,
Uluc Yis
,
Tuncay Derya Okur
,
Ayse Ipek Polat
,
Nafise Amiri
,
Mohammad Doosti
,
Ehsan Ghayoor Karimani
,
Mehran B Toosi
,
Gabriel Haddad
,
Mert Karakaya
,
Brunhilde Wirth
,
Johanna M van Hagen
,
Nicole I Wolf
,
Reza Maroofian
,
Henry Houlden
,
Sebahattin Cirak
,
Joseph G Gleeson
PMID:
34861176
PMCID:
PMC8715173
DOI:
10.1016/j.ajhg.2021.11.013
No abstract available
Publication types
Published Erratum