Article

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

2023-03-31

Abstract excerpt

<h4>Background: </h4> 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 vermis aplasia. JS can also have variable multi-organ involvement, including the retina, kidneys, liver, and...

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Literature Corpus work: 9a0e47ce-c5cf-5337-b876-45d0d2b2d1e1
DOI: 10.12688/f1000research.109628.2

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