Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
OGDHL基因的双等位基因变异会导致一种神经发育谱系疾病，其特征包括癫痫、听力丧失、视力障碍和共济失调。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.11.003
Zheng Yie Yap ,Stephanie Efthymiou ,Simone Seiffert ,Karen Vargas Parra ,Sukyeong Lee ,Alessia Nasca ,Reza Maroofian ,Isabelle Schrauwen ,Manuela Pendziwiat ,Sunhee Jung ,Elizabeth Bhoj ,Pasquale Striano ,Kshitij Mankad ,Barbara Vona ,Sanmati Cuddapah ,Anja Wagner ,Javeria Raza Alvi ,Elham Davoudi-Dehaghani ,Mohammad-Sadegh Fallah ,Srinitya Gannavarapu ,Costanza Lamperti ,Andrea Legati ,Bibi Nazia Murtaza ,Muhammad Shahid Nadeem ,Mujaddad Ur Rehman ,Kolsoum Saeidi ,Vincenzo Salpietro ,Sarah von Spiczak ,Abigail Sandoval ,Sirous Zeinali ,Massimo Zeviani ,Adi Reich ,Ingo Helbig ,Tahsin Stefan Barakat ,Daniele Ghezzi ,Suzanne M Leal ,Yvonne Weber ,Henry Houlden ,Wan Hee Yoon
