Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation

Recent studies have shown that RNU4-2 pathogenic gene variants are among the most frequent causes of monogenic neurodevelopmental disorders. We present an adult patient with a pathogenic variant in the RNU4-2 gene associated with the presence of severe osteoporosis. A 19-year-old male diagnosed with...

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