Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report

• 主要な著者: Kaiyan Wei (著者), Chaochun Zou (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

The NAA10 gene encodes the catalytic subunit of the N-terminal acetyltransferase protein complex A (NatA), which is supposed to acetylate approximately 40% of the human proteins. After the advent of next-generation sequencing, more variants in the NAA10 gene and Ogden syndrome (OMIM# 300855) have be...