A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin

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 cha...

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Detalles Bibliográficos
Autores principales: Ekhzaimy, Aishah A., Alyusuf, Ebtihal Y., Alswailem, Meshael, Alzahrani, Ali S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878747/
https://www.ncbi.nlm.nih.gov/pubmed/35208525
http://dx.doi.org/10.3390/medicina58020202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878747/
https://www.ncbi.nlm.nih.gov/pubmed/35208525
http://dx.doi.org/10.3390/medicina58020202

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