A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 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-coil...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report and Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621312/
https://www.ncbi.nlm.nih.gov/pubmed/37910852
http://dx.doi.org/10.1177/03000605231206294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621312/
https://www.ncbi.nlm.nih.gov/pubmed/37910852
http://dx.doi.org/10.1177/03000605231206294

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