Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Abstract Background Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we applied the whole exome sequencing (WES) to find the cause of HL and COD in an Iranian consanguineous family with...

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Main Authors: Zahra Nouri (Author), Akram Sarmadi (Author), Sina Narrei (Author), Hamidreza Kianersi (Author), Farzan Kianersi (Author), Mohammad Amin Tabatabaiefar (Author)
Format: Book
Published: BMC, 2024-07-01T00:00:00Z.
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