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
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| Description | scientific article published on September 2007 |
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author: Umberto Ambrosetti Markus Paulmichl Paolo Beck-Peccoz Silvia Dossena Valentina Cirello Guido Bottà |
| Publication date | September 1, 2007 |
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