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
A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report.
Kochar IPS et al.
Clinical Medicine Insights. Case Reports, 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
Novel mutation and white matter involvement in an Indian child with pycnodysostosis.
Singh A et al.
Indian Journal of Pediatrics, 2015
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