Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

Abstract Background The RPGR gene has been associated with X‐linked cone‐rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been included in panel‐based testing and thus genome‐wide tests such as ES may be required for accurate...

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Bibliographic Details
Main Authors: Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, The Texome Project, Michael F. Wangler, Sandesh Nagamani
Format: Article
Language:English
Published: Wiley 2024-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exome sequencing
retinal dystrophy
retinitis pigmentosa
RPGR
Online Access:https://doi.org/10.1002/mgg3.2404

Internet

https://doi.org/10.1002/mgg3.2404

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