Clouston Syndrome: A Complete Genotype–Phenotype Correlation After Four Decades And Six Generations

    Siti Nuraihan, Jiayi Lee, Zacharias Aloysius Dwi Pramano, Kin Fon Leong
    Studysummary This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
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