Novel mutation of the TINF2 gene resulting in severe phenotypic Revesz syndrome.
作者信息
Sakwit Anusak, Rojanaporn Duangnate, Mekjaruskul Pimsiri, Suriyajakryuththana Wiboon, Sasanakul Werasak, Sirachainan Nongnuch
机构信息
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Department of Ophthalmology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
出版信息
Pediatr Blood Cancer. 2019 Mar;66(3):e27557. doi: 10.1002/pbc.27557. Epub 2018 Nov 26.
PMID:30478948
Abstract
摘要
Zotero 插件