Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Mutations in the photoreceptor-specific
gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy. No treatments are available for patients with
retinal ciliopathies exhibiting a severe clinical phenotype. Our understanding of the disease process and t...
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Full title
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases
Authors, Artists and Contributors
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10341768
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10341768
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms241310670
