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

Ижил төстэй зүйлс

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