(Q40086003)
Statements
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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 (English)
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Laura Fugazzola
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Silvia Dossena
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Simona Rodighiero
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Marina Muzza
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Pierangela Castorina
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Faustina Lalatta
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Guido Bottà
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Markus Paulmichl
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1 September 2007
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157
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3
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331-338
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Identifiers
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1 reference