High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.

Laura Fugazzola, Valentina Cirello, Silvia Dossena (Co-author), Simona Rodighiero, Marina Muzza, Pierangela Castorina, Faustina Lalatta, Umberto Ambrosetti, Paolo Beck-Peccoz, Guido Bottà, Markus Paulmichl (Last author)

    Research output: Contribution to journalOriginal Article (Journal)peer-review

    28 Citations (Web of Science)
    Original languageEnglish
    Pages (from-to)331-338
    JournalEUROPEAN JOURNAL OF ENDOCRINOLOGY
    Volume157
    Issue number3
    DOIs
    Publication statusPublished - 2007

    Keywords

    • PDS GENE
    • MOLECULAR ANALYSIS
    • IODIDE EFFLUX
    • INNER-EAR
    • WILD-TYPE
    • MUTATIONS
    • DEAFNESS
    • EXPRESSION
    • CELLS
    • TRANSPORTER

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