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Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

2 Oct 2020

Abstract excerpt

Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of...

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PMID: 33023209
DOI: 10.3390/diagnostics10100779

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