Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple effects on chondrocyte, osteoblast and osteoclast function. Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including brachydactyly type E, Eiken syndrome, Jansen metaphyseal chondrodysplasia and Blomstrand type chondrodysplasia. Here we de...Expand abstract
- Publication status:
- Publisher copy:
- Copyright date:
A new acro-osteolysis syndrome caused by duplications including PTHLH.
If you are the owner of this record, you can report an update to it here: Report update to this record