Cover
Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, Michael F. Wangler, Sandesh Nagamani
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.
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
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsFetal and Pediatric Neurological Disorders · Ocular Disorders and Treatments · Retinal Development and Disorders