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Article

The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.

Bone - 1 Dec 2023

Tüysüz Beyhan, Usluer Esra, Uludağ Alkaya Dilek, Ocak Süheyla, Saygılı Seha, Şeker Ali, Apak Hilmi

Abstract excerpt

BACKGROUND: Osteopetrosis and related osteoclastic disorders are a heterogeneous group of inherited diseases characterized by increased bone density. The aim of this study is to investigate the molecular spectrum and natural history of the clinical and radiological features of these disorders. METHODS: 28 patients from 20 families were enrolled in the study; 20 of them were followed for a period of 1-16 years....

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Source

Identifiers

PMID: 37704070
DOI: 10.1016/j.bone.2023.116897

Genes

CLCN7
CCDC120
CA2
TCIRG1
CTSK
SLC29A3
SNX10
TNFRSF11A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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