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

Liknande verk

• Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature
  av: Pantel, Jacques, et al.
  Publicerad: (2006)
• Oriented Scanning Is the Leading Mechanism Underlying 5′ Splice Site Selection in Mammals
  av: Borensztajn, Keren, et al.
  Publicerad: (2006)
• Pituitary miRNAs target GHRHR splice variants to regulate GH synthesis by mediating different intracellular signalling pathways
  av: Cheng, Yunyun, et al.
  Publicerad: (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
  av: Şıklar, Zeynep, et al.
  Publicerad: (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.
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