A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin
A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin
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Switzerland: MDPI AG
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English
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Switzerland: MDPI AG
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Background and Objectives: Sclerostin is an SOST gene product that inhibits osteoblast activity and prevents excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis has been linked to loss of function mutations in the SOST gene. It is a rare autosomal recessive disorder characterized by craniotubular hyperostosis and can l...
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A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin
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TN_cdi_doaj_primary_oai_doaj_org_article_39aa18446dec433185f3e51810572857
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_39aa18446dec433185f3e51810572857
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ISSN
1648-9144,1010-660X
E-ISSN
1648-9144
DOI
10.3390/medicina58020202
