Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

Lignende værker

• Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses
  af: Zayed Al-Zayed, et al.
  Udgivet: (2021-02-01)
• The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses
  af: Wanlu Liu, et al.
  Udgivet: (2022-09-01)
• Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
  af: Angelos Alexandrou, et al.
  Udgivet: (2023-05-01)
• Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family
  af: Muhammad Ajmal, et al.
  Udgivet: (2022-12-01)
• A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate
  af: Caixia Xian, et al.
  Udgivet: (2021-05-01)