Search
platyspondylic lethal skeletal dysplasia (PLSD)
Pathology:
- heterogeneous group of chondrodysplasias
Clinical manifestations:
- severe platyspondyly & limb shortening
Specific
platyspondylic lethal skeletal dysplasia (PLSD-SD)
platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
General
skeletal dysplasia
References
UniProt :accession P22607