The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

Abstract Background Early‐onset photoreceptor dystrophies are a major cause of irreversible visual impairment in children and young adults. This clinically heterogeneous group of disorders can be caused by mutations in many genes. Nevertheless, to date, 30%–40% of cases remain genetically unexplaine...

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Bibliographic Details
Main Authors: Sanne K. Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P. M. Cremers, Carel B. Hoyng, Susanne Roosing
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
early‐onset retinal dystrophy
intronic variant
TULP1
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.660

Internet

https://doi.org/10.1002/mgg3.660

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