Identification of the pathogenic variants in three Chinese families with dyschromatosis symmetrica hereditaria

Objective To analyze the clinical features and to identify the pathogenic variants in three Chinese families with dyschromatosis symmetrica hereditaria (DSH). Methods Clinical information and peripheral blood samples from three trio families with DSH were collected. The variants were detected by w...

詳細記述

書誌詳細

出版年:	Jichu yixue yu linchuang
第一著者:	YANG Xueting, GUO Kexin, SUN Yang, WANG Rongrong, MA Donglai, ZHANG Xue
フォーマット:	論文
言語:	中国語
出版事項:	Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2023-02-01
主題:	dyschromatosis symmetrica hereditarian|whole exome sequencing|adar|de novo variants
オンライン･アクセス:	http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2023-43-2-259.pdf