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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
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 |