P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES

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Bibliographic Details
Published inGenetics in Medicine Open Vol. 2; p. 101329
Main Authors Zhai, Yi, Ballios, Brian
Format Journal Article
LanguageEnglish
Published Elsevier Inc 2024
Elsevier
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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2024.101329