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Joubert syndrome: A classic case

Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia of vermis. Cerebellar vermin anomalies are desc...

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Detalles Bibliográficos
Autores principales:	Kumar, Puneeth, Dey, Amit, Mittal, Kartik, Sharma, Rajaram, Goyal, Anmol, Hira, Priya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396587/ https://www.ncbi.nlm.nih.gov/pubmed/30911530 http://dx.doi.org/10.4103/jfmpc.jfmpc_165_18

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