A novel variant in NSUN2 causes intellectual disability in a Chinese family

• Main Authors: Qi Yang (Author), Qiang Zhang (Author), Zailong Qin (Author), Shang Yi (Author), Jingsi Luo (Author)
• Formato: Libro
• Publicado: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Abstract NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language...