A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family

Gene. 2024 May 20:907:148268. doi: 10.1016/j.gene.2024.148268. Epub 2024 Feb 11.
No abstract available

MeSH terms

  • Cataract* / congenital*
  • Cataract* / genetics
  • China
  • Frameshift Mutation
  • Genetic Diseases, X-Linked* / genetics
  • Humans
  • Pedigree
  • State Medicine
  • Tooth Abnormalities* / genetics

Supplementary concepts

  • Nance-Horan syndrome