Background CWC27-related spliceosomeopathy is a rare autosomal recessive disorder with only 14 patients have been reported. It is characterized by retinal degeneration, short stature, skeletal anomalies, and neurological defects. We described the clinical features of a Chinese patient with CWC27-related spliceosomeopathy and identified the pathogenic variant.
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Li et al. (2024) studied this question.
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