Associated Papers
A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.
Li H et al.
Ophthalmic Genetics, 2024
Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report.
Qi YF et al.
Medicine, 2023
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Villanueva-Mendoza C et al.
Genes, 2021
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.
Brea-Fernández AJ et al.
Journal of Human Genetics, 2019
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M et al.
American Journal of Human Genetics, 2017
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