Woodhouse-Sakati Syndrome: The New Genetic Variant Of DCAF17 In Two Adult Sisters

    July 2024 in “ JCEM Case Reports ”
    M. Amosova, I. V. Poluboyarinova, В. В. Фадеев, A.Yu. Asanov
    Studysummary This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
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