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

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

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 ), inositol polyphosphate-5-phosphatase ( INPP5E ), coiled-...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: SAGE Publishing 2023-10-01
Series:Journal of International Medical Research
Online Access:https://doi.org/10.1177/03000605231206294

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https://doi.org/10.1177/03000605231206294

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