Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family

BackgroundCockayne syndrome (CS) is a rare, multisystem, autosomal recessive disorder characterized by cachectic dwarfism, nervous system abnormalities, and premature aging. Mutations in the ERCC6 and ERCC8 genes are the predominant causes of Cockayne syndrome, with ERCC6 gene mutations present in a...

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出版年:	Frontiers in Genetics
主要な著者:	Xuemei He, Yiyuan Zhang, Xianjing Huang, Pingping Qiu, Hong Ji, Lu Ding, Yingying Shi, Yanru Huang, Ping Li, Libin Mei
フォーマット:	論文
言語:	英語
出版事項:	Frontiers Media S.A. 2024-10-01
主題:	Cockayne syndrome whole-exome sequencing ERCC6 preimplantation genetic testing for monogenic disorders (PGT-M) embryo
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1435622/full