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
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
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
Shambhavi A et al.
Journal of Pediatric Genetics, 2018
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