Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene

Antzeko izenburuak

• Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature
  nork: Pantel, Jacques, et al.
  Argitaratua: (2006)
• Oriented Scanning Is the Leading Mechanism Underlying 5′ Splice Site Selection in Mammals
  nork: Borensztajn, Keren, et al.
  Argitaratua: (2006)
• Pituitary miRNAs target GHRHR splice variants to regulate GH synthesis by mediating different intracellular signalling pathways
  nork: Cheng, Yunyun, et al.
  Argitaratua: (2020)
• Two Siblings with Isolated GH Deficiency Due to Loss−of−Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation
  nork: Şıklar, Zeynep, et al.
  Argitaratua: (2010)
• Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.
  nork: Dastot, F, et al.
  Argitaratua: (1996)