A new acro-osteolysis syndrome caused by duplications including PTHLH.
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...
| Hlavní autoři: | , , , , , , , |
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| Médium: | Journal article |
| Jazyk: | English |
| Vydáno: |
2014
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