The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Background
Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes frequently affecting collagen biosynthesis. Mutations in CREB3L1 encoding the ER stress transducer OASIS are very rare and are only reported in pediatric patients. We report a large family...
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Full title
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
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TN_cdi_doaj_primary_oai_doaj_org_article_56d950aadbc1414080537d9c8faa112d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_56d950aadbc1414080537d9c8faa112d
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.823
