Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

  title={Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.},
  author={Steven G. Brodie and Hiroshi Kitoh and Ralph S. Lachman and Leticia Nolasco and Pertchoui B. Mekikian and William R Wilcox},
  journal={American journal of medical genetics},
  volume={84 5},
The platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of short-limb dwarfing conditions. The most common form of PLSD is thanatophoric dysplasia (TD), which has been divided into two types (TD1 and TD2). Three other types of PLSD, or TD variants (San Diego, Torrance, and Luton), have been distinguished from TD. The most notable difference between TD and the variants is the presence of large rough endoplasmic reticulum (rER) inclusion bodies within chondrocytes of the… CONTINUE READING


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