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Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency.

Jaebeen KangMin-Ji KimSukdong YooChong Kun Cheon
Published in: Annals of pediatric endocrinology & metabolism (2024)
Keyphrases
  • growth hormone
  • case report
  • copy number
  • genome wide
  • genome wide identification
  • replacement therapy
  • dna methylation
  • transcription factor