A case report of Joubert syndrome with renal involvement and seizures in a neonate

Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular struct...

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Detalles Bibliográficos
Autores principales: Ahmetgjekaj, Ilir, Rahman, Masum, Hyseni, Fjolla, Guy, Ali, Madani, Kulsum, Saliaj, Kristi, Guy, Angela, Vokshi, Valon, Kola, Ina, Musa, Juna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7921194/
https://www.ncbi.nlm.nih.gov/pubmed/33717386
http://dx.doi.org/10.1016/j.radcr.2021.02.031

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