Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy

Joubert syndrome (JBTS) is a rare autosomal recessive or X-linked congenital brain malformation with strong genetic heterogeneity. Other neurological features of JBTS include hypotonia, ataxia, developmental delay, and cognitive impairment. Hearing loss with JBTS has been reported in the literature....

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Detalles Bibliográficos
Autores principales: Sreedevi, N., Swapna, N., Maruthy, Santosh, Jayakumar, T., Sylvester, Charles
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10370468/
https://www.ncbi.nlm.nih.gov/pubmed/37501760
http://dx.doi.org/10.1055/s-0043-1771184

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10370468/
https://www.ncbi.nlm.nih.gov/pubmed/37501760
http://dx.doi.org/10.1055/s-0043-1771184

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