Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
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40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.
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Molecular and Cellular Probes, 2025
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.
Tüysüz B et al.
Bone, 2023
CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.
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Molecular Medicine Reports, 2019
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.
Cao W et al.
Bmj Open Ophthalmology, 2018
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