# Cover

**Authors:** Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, Michael F. Wangler, Sandesh Nagamani

PMC · DOI: 10.1002/mgg3.2450 · Molecular Genetics & Genomic Medicine · 2024-05-08

## TL;DR

This paper reports a new genetic mutation in RPGR linked to retinal dystrophy and hearing loss in a patient.

## Contribution

A novel hemizygous single-nucleotide duplication in RPGR is identified as a cause of combined retinal and hearing disorders.

## Key findings

- A patient presented with retinal dystrophy and sensorineural hearing loss.
- A hemizygous single-nucleotide duplication in the RPGR gene was found to be the underlying cause.

## Abstract

The cover image is based on the Clinical Report Novel hemizygous single‐nucleotide duplication in 
RPGR
 in a patient with retinal dystrophy and sensorineural hearing loss by Ryan J. German et al., https://doi.org/10.1002/mgg3.2404

## Linked entities

- **Genes:** RPGR (retinitis pigmentosa GTPase regulator) [NCBI Gene 6103]
- **Diseases:** retinal dystrophy (MONDO:0019118), sensorineural hearing loss (MONDO:0010576)

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC11079530/full.md

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Source: https://tomesphere.com/paper/PMC11079530