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

Samankaltaisia teoksia

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