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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlying clinical heterogeneity, including penetrance of...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000055/ https://www.ncbi.nlm.nih.gov/pubmed/35353811 http://dx.doi.org/10.1371/journal.pgen.1010129 |