Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues

J Appl Genet. 2013 May;54(2):231-4. doi: 10.1007/s13353-013-0136-2. Epub 2013 Jan 31.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Child
  • Humans
  • Male
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / physiopathology
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / physiopathology

Supplementary concepts

  • Spondylometaphyseal dysplasia, axial