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Dec 22, 2023
Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report
Study adds to our understanding of the clinical phenotype of TBL1XR1 mutations and provides a realistic and reliable basis for clinicians.
Apr 5, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Study shows a retinal dystrophy-related phenotype spectrum and its genetic etiology; highlights the complexity of spliceosomal gene network.
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