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...

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Detalles Bibliográficos
Autores principales: Sivathanu, Deepika, Vetrichelvan, Dhanarathnamoorthy, Balakrishnan, Umamaheswari, Manokaran, Ranjith Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
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

Internet

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

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