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pro vyhledávání: '"Anastasia Vladimirovna Erofeeva"'
Autor:
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
Publikováno v:
Journal of International Medical Research, Vol 51 (2023)
Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the “molar tooth sign” on magnetic resonance imaging. Mutations in 40 genes, including Abelson helper integration site 1 ( AHI1 ), in
Externí odkaz:
https://doaj.org/article/cb3fbf99cefa4d37beaa01d6e0d4d25b
