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Article

A diagnostic approach to syndromic retinal dystrophies with intellectual disability.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2020

Yang Xiao-Ru, Benson Matthew D, MacDonald Ian M, Innes A Micheil

Abstract excerpt

Inherited retinal dystrophies are a group of monogenic disorders that, as a whole, contribute significantly to the burden of ocular disease in both pediatric and adult patients. In their syndromic forms, retinal dystrophies can be observed in association with intellectual disability, frequently alongside other systemic manifestations. There are now over 80 genes implicated in syndromic retinal dystrophies with...

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Identifiers

PMID: 32918368
DOI: 10.1002/ajmg.c.31834

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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