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An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847091/ https://www.ncbi.nlm.nih.gov/pubmed/33531950 http://dx.doi.org/10.4103/jpn.JPN_168_19 |