VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population

Autor: Öztop-Çakmak, Ö., Şimşir, G., Tekgül, Ş., Aygün, M.S., Gökler, O., Kahyaoğlu, B., Kaya, Z.E., Palvadeau, R., Başak, A.N., Ertan, S.
Zdroj: In Revue Neurologique November 2022 178(9):907-913
Databáze: ScienceDirect