Associated Papers
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
From genotype to phenotype: the impact of early management in pycnodysostosis.
Von Zuben PRGDS et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.
Spencer C et al.
Frontiers in Oral Health, 2023
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
Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.
Girbal I et al.
Bmj Case Reports, 2013
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
Xue Y et al.
Orphanet Journal of Rare Diseases, 2011
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.
Bertola D et al.
American Journal of Medical Genetics. Part A, 2010