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

• Main Authors: Kaiyan Wei (Author), Chaochun Zou (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: 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...