Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development

Mutations in SET BINDING PROTEIN 1 (SETBP1) cause two different clinically distinguishable diseases called Schinzel–Giedion syndrome (SGS) or SETBP1 deficiency syndrome (SDD). Both disorders are disorders of protein dosage, where SGS is caused by decreased rate of protein breakdown due to mutations...

詳細記述

書誌詳細
出版年:Frontiers in Neuroscience
主要な著者: Lilit Antonyan, Carl Ernst
フォーマット: 論文
言語:英語
出版事項: Frontiers Media S.A. 2022-05-01
主題:
オンライン・アクセス:https://www.frontiersin.org/articles/10.3389/fnins.2022.813430/full