Associated Papers
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
Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.
Roy S et al.
The Febs Journal, 2018
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
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
A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.
Khan B et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2010
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