Identification of a Novel RPS6KA3 Variant in a Female Child With Features of Coffin-Lowry Syndrome: A Case Study

    January 2025 in “ Genetics in Medicine Open ”
    Lavina Thadani, Dihong Zhou
    Studysummary In this case report, a 33-year-old male with symptoms resembling Neuromyelitis Optica was treated with 10 mg biotin daily, which may reverse certain ophthalmologic and myelopathy findings. The researchers emphasize the need for further research on biotinidase deficiency in patients misdiagnosed with similar conditions.
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