The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.
作者信息
Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage M O, Bossowski A T, Storr H L
机构信息
Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.
Department of Paediatrics, Endocrinology and Diabetes with a Cardiology Division, Medical University of Bialystok, ul. Waszyngtona 17, 15-274, Białystok, Poland.
出版信息
J Endocrinol Invest. 2021 Jun;44(6):1331-1334. doi: 10.1007/s40618-020-01433-z. Epub 2020 Sep 29.
PMID:32996068
Abstract
摘要
Zotero 插件