Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis.

Autor: Zhalsanova, Irina Zhargalovna¹ (AUTHOR) irina.zhalsanova@medgenetics.ru, Fonova, Elizaveta Alekseevna¹ (AUTHOR), Valiakhmetov, Nail Raushanovich¹ (AUTHOR), Kolesnikov, Nikita Aleksandrovich¹ (AUTHOR), Gosudarkina, Sofia Nikolaevna¹ (AUTHOR), Agafonova, Anna Aleksandrovna¹ (AUTHOR), Ravzhaeva, Ekaterina Georgievna¹ (AUTHOR), Seitova, Gulnara Narimanovna¹ (AUTHOR), Stepanov, Vadim Anatolyevich¹ (AUTHOR), Skryabin, Nikolay Alekseevich¹ (AUTHOR) nikolay.skryabin@medgenetics.ru

Publikováno v: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p13025. 9p.