Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

por Markova, Tatyana, Kenis, Vladimir, Melchenko, Evgeniy, Osipova, Darya, Nagornova, Tatyana, Orlova, Anna, Zakharova, Ekaterina, Dadali, Elena, Kutsev, Sergey
Publicado 2022

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

por Markova, Tatiana Vladimirovna, Kenis, Vladimir, Melchenko, Evgeniy, Guseva, Darya, Osipova, Darya, Galeeva, Nailya, Nagornova, Tatiana, Dadali, Elena Leonidovna
Publicado 2022