Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene

Clin Endocrinol (Oxf). 2008 Jul;69(1):170-2. doi: 10.1111/j.1365-2265.2007.03157.x. Epub 2008 Jul 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Age Determination by Skeleton
  • Base Sequence
  • DNA Mutational Analysis
  • Dwarfism, Pituitary / diagnosis
  • Dwarfism, Pituitary / genetics*
  • Female
  • Hormone Replacement Therapy
  • Human Growth Hormone / deficiency*
  • Human Growth Hormone / genetics*
  • Human Growth Hormone / therapeutic use
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Phenotype
  • Siblings

Substances

  • Human Growth Hormone