Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress

Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder with characteristic clinical presentation of hyperpnea-apnea spells, hypotonia, dysmorphic facies, and nystagmus and imaging features of molar tooth sign and cerebellar vermian hypoplasia-dysplasia. Early diagnosis is ne...

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Detalles Bibliográficos
Autores principales: Agarwal, Beena D, Mohapatra, Satya, Singh, Sumedha, Guduru, Vijay, Nayak, Soumya R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186261/
https://www.ncbi.nlm.nih.gov/pubmed/35698700
http://dx.doi.org/10.7759/cureus.24907

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186261/
https://www.ncbi.nlm.nih.gov/pubmed/35698700
http://dx.doi.org/10.7759/cureus.24907

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