The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants

• Principais autores: Bo Bi (Autor), Xiaohong Chen (Autor), Shan Huang (Autor), Min Peng (Autor), Weiyue Gu (Autor), Hongmin Zhu (Autor), Yangcan Ming (Autor)
• Formato: Livro
• Publicado em: BMC, 2024-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract NUDT2 is an enzyme important for maintaining the intracellular level of the diadenosine tetraphosphate (Ap4A). Bi-allelic loss of function variants in NUDT2 has recently been reported as a rare cause of intellectual disability (ID). Herein, we describe a Chinese girl with ID, attention defi...