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...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2014
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| _version_ | 1826271736917655552 |
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| author | Gray, M van Kogelenberg, M Beddow, R Morgan, T Wordsworth, P Shears, D Robertson, S Hurst, J |
| author_facet | Gray, M van Kogelenberg, M Beddow, R Morgan, T Wordsworth, P Shears, D Robertson, S Hurst, J |
| author_sort | Gray, M |
| collection | OXFORD |
| description | 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 describe three individuals with duplications of the PTHLH locus, including two who are mosaic for these imbalances, leading to a hitherto unrecognized syndrome characterized by acro-osteolysis, cortical irregularity of long bones and metadiaphyseal enchondromata. |
| first_indexed | 2024-03-06T22:01:24Z |
| format | Journal article |
| id | oxford-uuid:4eb83bf4-431a-40ff-ac50-15620a984e3d |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T22:01:24Z |
| publishDate | 2014 |
| record_format | dspace |
| spelling | oxford-uuid:4eb83bf4-431a-40ff-ac50-15620a984e3d2022-03-26T16:02:50ZA new acro-osteolysis syndrome caused by duplications including PTHLH.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:4eb83bf4-431a-40ff-ac50-15620a984e3dEnglishSymplectic Elements at Oxford2014Gray, Mvan Kogelenberg, MBeddow, RMorgan, TWordsworth, PShears, DRobertson, SHurst, JParathyroid 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 describe three individuals with duplications of the PTHLH locus, including two who are mosaic for these imbalances, leading to a hitherto unrecognized syndrome characterized by acro-osteolysis, cortical irregularity of long bones and metadiaphyseal enchondromata. |
| spellingShingle | Gray, M van Kogelenberg, M Beddow, R Morgan, T Wordsworth, P Shears, D Robertson, S Hurst, J A new acro-osteolysis syndrome caused by duplications including PTHLH. |
| title | A new acro-osteolysis syndrome caused by duplications including PTHLH. |
| title_full | A new acro-osteolysis syndrome caused by duplications including PTHLH. |
| title_fullStr | A new acro-osteolysis syndrome caused by duplications including PTHLH. |
| title_full_unstemmed | A new acro-osteolysis syndrome caused by duplications including PTHLH. |
| title_short | A new acro-osteolysis syndrome caused by duplications including PTHLH. |
| title_sort | new acro osteolysis syndrome caused by duplications including pthlh |
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