Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Documenti analoghi

• Windswept lower limb deformities in patients with hypophosphataemic rickets
  di: Ali Al Kaissi, et al.
  Pubblicazione: (2013-12-01)
• Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
  di: Dixon, P, et al.
  Pubblicazione: (1996)
• Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
  di: Read, A, et al.
  Pubblicazione: (1986)
• X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
  di: Christie, P, et al.
  Pubblicazione: (2000)
• Bridging markers defining the map position of X linked hypophosphataemic rickets.
  di: Thakker, R, et al.
  Pubblicazione: (1987)