Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants

Autor: Tüysüz, Beyhan, Kasap, Büşra, Sarıtaş, Merve, Alkaya, Dilek Uludağ, Bozlak, Serdar, Kıykım, Ayça, Durmaz, Asude, Yıldırım, Timur, Akpınar, Evren, Apak, Hilmi, Vural, Mehmet
Zdroj: In Bone February 2023 167
Databáze: ScienceDirect