Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment

INTRODUCTION: Joubert syndrome (JS) is an autosomal recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including congenital retinal dystrophy. The function of different retinal elements (rod, cone, bipolar cells) can be object...

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Vydáno v:Adv Ther
Hlavní autoři: Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Healthcare 2020
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Original Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7444391/
https://ncbi.nlm.nih.gov/pubmed/32671685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12325-020-01432-9
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