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Joubert Syndrome with Orofacial Digital Features

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, m...

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Detalles Bibliográficos
Autores principales:	Bhardwaj, Parveen, Sharma, Minoo, Ahluwalia, Karan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812143/ https://www.ncbi.nlm.nih.gov/pubmed/29456362 http://dx.doi.org/10.4103/jnrp.jnrp_338_17

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