Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

Biallelic pathogenic variants in <i>TULP1</i> are mostly associated with severe rod-driven inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 patients and characterized the underlying biallelic variants in <i>TULP1</i>. All patients underw...

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Bibliographic Details
Main Authors: Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
<i>TULP1</i>
inherited retinal degeneration
retinitis pigmentosa
Leber congenital amaurosis
cone dystrophy
cone-rod dystrophy
Online Access:https://www.mdpi.com/1422-0067/24/3/2709

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