Characterisation of the Pendred syndrome gene
Pendred syndrome is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid enlargement. Phenotypic heterogeneity is observed in affected individuals particularly, with regard to the severity of thyroid dysfunction. Mutations in the PDS (SLC26A4) gene on chromosome 7q...
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University of Leicester
2002
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.697127 |