Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features. [version 2; peer review: 2 approved]

Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brain including cerebellar hypoplasia and cerebellar v...

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Hlavní autoři:	Gazmend Temaj, John A Sayer, Lidvana Spahiu, Thomas Liehr, Emir Behluli
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	F1000 Research Ltd 2023-03-01
Edice:	F1000Research
Témata:	Joubert syndrome CEP290 molecular genetics ciliopathy retinal dystrophy eng
On-line přístup:	https://f1000research.com/articles/11-388/v2
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