Whole‐exome sequencing reveals a retinitis pigmentosa‐causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum-Reference-Cited by-同舟云学术

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Whole‐exome sequencing reveals a retinitis pigmentosa‐causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum

Published:2022-10-25 Issue:2 Volume:50 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Miyazaki Akira¹^ORCID,Takeichi Takuya¹^ORCID,Tanahashi Kana¹,Taki Tomoki¹^ORCID,Taki Yosuke²³,Muro Yoshinao¹^ORCID,Akiyama Masashi¹^ORCID

Affiliation:

1. Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan

2. Department of Ophthalmology Nagoya University Graduate School of Medicine Nagoya Japan

3. Department of Ophthalmology Tokyo Dental College Ichikawa General Hospital Chiba Japan

Funder

Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16618

Reference5 articles.

1. Mutation detection in the ABCC6 gene and genotype phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

2. Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies

3. Human Gene Mutation Database (HGMD®): 2003 update

4. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

5. Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

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