A novel KAL1 mutation is associated with combined pituitary hormone deficiency

Documenti analoghi

• Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation
  di: Asakura, Yumi, et al.
  Pubblicazione: (2015)
• Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
  di: Takagi, Masaki, et al.
  Pubblicazione: (2017)
• Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency
  di: Higa, Moritake, et al.
  Pubblicazione: (2021)
• Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary
  di: Penta, Laura, et al.
  Pubblicazione: (2019)
• Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism
  di: Takagi, Masaki, et al.
  Pubblicazione: (2012)