An extremely severe phenotype attributed to WDR81 nonsense mutations.
作者信息
Cappuccio Gerarda, Pinelli Michele, Torella Annalaura, Vitiello Giuseppina, D'Amico Alessandra, Alagia Marianna, Del Giudice Ennio, Nigro Vincenzo, Brunetti-Pierri Nicola
机构信息
Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
出版信息
Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058.
PMID:28972664
Abstract
摘要
Zotero 插件