Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

por Kozina, Anastasiya Aleksandrovna, Baryshnikova, Natalia Vladimirovna, Ilinskaya, Anna Yurievna, Kim, Anna Alexandrovna, Plotnikov, Nikolay Alekseevich, Pogodina, Nadezhda Andreevna, Surkova, Ekaterina Ivanovna, Shatalov, Peter Alekseevich, Ilinsky, Valery Vladimirovich
Publicado 2022

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene

por Kozina, Anastasiya Aleksandrovna, Kanaeva, Guria Kurbanovna, Baryshnikova, Natalia Vladimirovna, Ilinskaya, Anna Yurievna, Kim, Anna Alexandrovna, Erofeeva, Anastasia Vladimirovna, Pogodina, Nadezhda Andreevna, Gadzhiyeva, Jamilya Payzutdinova, Surkova, Ekaterina Ivanovna, Ilinsky, Valery Vladimirovich
Publicado 2023