Associated Papers
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.
Tüysüz B et al.
Bone, 2023
A First-Case Report of Pycnodysostosis in an Omani Boy.
Al-Araimi M et al.
Journal of Pediatric Genetics, 2022
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Mushiba AM et al.
American Journal of Medical Genetics. Part A, 2021
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V et al.
Clinical Genetics, 2019
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Araujo TF et al.
European Journal of Medical Research, 2016
Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
Xue Y et al.
Journal of Dental Research, 2015
Current research on pycnodysostosis.
Turan S
Intractable & Rare Diseases Research, 2014
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
Arman A et al.
Orphanet Journal of Rare Diseases, 2014
Select a paper to view details