Associated Papers
Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis.
Zhalsanova IZ et al.
International Journal of Molecular Sciences, 2024
Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature.
Moroni A et al.
European Journal of Medical Genetics, 2024
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Markova TV et al.
Molecular Genetics & Genomic Medicine, 2022
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