Novel pathogenic variant in a family with nephronophthisis.
作者信息
Al-Hamed Mohamed H, Alzaidan Hamad, Hussein Maged, Albaik Lina, Qari Alya, Sayer John A, Imtiaz Faiqa
机构信息
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
出版信息
Clin Kidney J. 2020 Jun 24;14(2):728-730. doi: 10.1093/ckj/sfaa090. eCollection 2021 Feb.
Abstract
摘要
Zotero 插件