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Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia

Abstract:

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is gain-of-function mutations in FLNA, although how these mutations result in a hyperostotic phenotype remains unknown. Approximately one half of individuals with FMD have no identified mutation in FLNA and are phenotypically very similar to individuals with FLNA mutations, except for an increased tendency to form keloid scars. Using whole-e...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher:
Cell Press
Journal:
American Journal of Human Genetics More from this journal
Volume:
99
Issue:
2
Pages:
392-406
Publication date:
2016-08-01
Acceptance date:
2016-05-22
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pmid:
27426733
Language:
English
Keywords:
Pubs id:
pubs:636473
UUID:
uuid:a92459dd-b820-49bc-8223-422783e01cea
Local pid:
pubs:636473
Deposit date:
2016-09-22

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