Article

Early onset non-syndromic retinal degeneration due to variants in <i>INPP5E:</i> phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

2020-08-26

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Pathogenic variants in INPP5E cause Joubert syndrome, a systemic disorder that can manifest with retinal degeneration among other clinical features. We aimed to evaluate the role of INPP5E variants in non-syndromic inherited retinal degenerations (IRDs) of varying severity. <h4>Methods</h4> Targeted or genome sequencing were performed in 12 unrelated non-syndromic IRD families fr...

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Literature Corpus work: 6737f694-3564-5499-8b95-6d7c784ca66a
DOI: 10.1101/2020.08.24.20179085

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