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Article

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

Medicina (Kaunas, Lithuania) - 28 Jan 2022

Ekhzaimy Aishah A, Alyusuf Ebtihal Y, Alswailem Meshael, Alzahrani Ali S

Abstract excerpt

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 lead to fatal cerebellar herniation. Our aim is to describe the...

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Identifiers

PMID: 35208525
DOI: 10.3390/medicina58020202
PMCID: PMC8878747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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