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    Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene

    Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene von Markova, Tatiana Vladimirovna, Kenis, Vladimir, Melchenko, Evgeniy, Guseva, Darya, Osipova, Darya, Galeeva, Nailya, Nagornova, Tatiana, Dadali, Elena Leonidovna


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