Journal article icon

Journal article

A new acro-osteolysis syndrome caused by duplications including PTHLH.

Abstract:

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:
Published

Actions


Access Document


Publisher copy:
10.1038/jhg.2014.58

Authors


van Kogelenberg, M More by this author
Wordsworth, P More by this author
Expand authors...
Journal:
Journal of human genetics
Volume:
59
Issue:
9
Pages:
484-487
Publication date:
2014-09-05
DOI:
EISSN:
1435-232X
ISSN:
1434-5161
URN:
uuid:4eb83bf4-431a-40ff-ac50-15620a984e3d
Source identifiers:
476266
Local pid:
pubs:476266
Language:
English

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP