Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis

Am J Med Genet A. 2009 Feb 15;149A(4):788-92. doi: 10.1002/ajmg.a.32343.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Human Growth Hormone / deficiency*
  • Humans
  • Male
  • Nephritis, Interstitial / genetics
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Radiography
  • Retinitis Pigmentosa / genetics*
  • Syndrome

Substances

  • Human Growth Hormone