Autor: Francisco, M. F., Gaspar, B., Silva, R., Carvalho, A. L., Marques, J. P.
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Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry
BackgroundInherited retinal diseases (IRDs) typically follow a single inheritance pattern, but some genes cause disease through both autosomal recessive (AR) and autosomal dominant (AD) patterns, challenging genetic counselling. This study aims to iden…
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Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry
BackgroundInherited retinal diseases (IRDs) typically follow a single inheritance pattern, but some genes cause disease through both autosomal recessive (AR) and autosomal dominant (AD) patterns, challenging genetic counselling. This study aims to iden…