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Article

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.

Journal of dental research - 1 May 2015

Xue Y, Wang L, Xia D, Li Q, Gao S, Dong M, Cai T, Shi S, He L, Hu K, Mao T, Duan X

Abstract excerpt

Cathepsin K (CTSK) is an important protease responsible for degrading type I collagen, osteopontin, and other bone matrix proteins. The mutations in the CTSK gene can cause pycnodysostosis (OMIM 265800), a rare autosomal recessive bone dysplasia. Patients with pycnodysostosis have been reported to present specific dental abnormalities; however, whether these dental abnormalities are related to dysfunctional CTSK...

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Source

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Identifiers

PMID: 25731711
DOI: 10.1177/0022034515573964
PMCID: PMC6728695

Genes

CTSK
TNC

Variants

Provenance

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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