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Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

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 syndr...

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Publicado en:Diagnostics (Basel)
Autores principales: Tatour, Yasmin, Ben-Yosef, Tamar
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7600643/
https://ncbi.nlm.nih.gov/pubmed/33023209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics10100779
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