Article

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene

2024-04-29

Abstract excerpt

<title>Abstract</title> <p>Sequence variants in <italic>Eyes Shut Homolog</italic> (<italic>EYS</italic>) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by <italic>EYS</italic>-related pseudodominant inheritance. The female proband, her brother, and both her sons showed typical RP, with diminished or non-recordable...

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Literature Corpus work: a27891e3-2c69-55f8-84a4-f48148044dbc
DOI: 10.21203/rs.3.rs-4196770/v1

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