Cargando…
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...
Autores principales: | Ekhzaimy, Aishah A., Alyusuf, Ebtihal Y., Alswailem, Meshael, Alzahrani, Ali S. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
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 |
Ejemplares similares
-
A Novel Mutation in SOST Gene Causes Sclerosteosis
por: Alyusuf, Ebtihal Y, et al.
Publicado: (2021) -
MON-LB59 Radiofrequency Ablation as a Primary Therapy for Benign Functioning Insulinoma
por: Alyusuf, Ebtihal Y, et al.
Publicado: (2020) -
Radiofrequency Ablation as a Primary Therapy for Benign Functioning Insulinoma
por: Alyusuf, Ebtihal Y., et al.
Publicado: (2020) -
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis
por: Fayez, Alaaeldin, et al.
Publicado: (2015) -
SAT613 A Novel NF1 Mutation As The Underlying Cause Of Dysmorphic Features And Acromegaly In An Atypical Case Of Neurofibromatosis Type 1
por: Alsagheir, Osamah, et al.
Publicado: (2023)