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Evaluation of genotype–phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome
European Journal of Endocrinology
DesignPatients with Pendred syndrome have genotypic and phenotypic variability, leading to challenges in definitive diagnosis. Deaf children with enlarged vestibular aqueducts are often subjected to repeated investigations when tests for mutations in SLC26A4 are abnormal. This study provides genotype and phenotype information from patients with suspected Pendred syndrome referred to a single clinical endocrinology unit.MethodsA retrospective analysis of 50 patients with suspected Pendreddoi:10.1530/eje-14-0679 pmid:25394566 fatcat:b44m46zxv5hufbimtsewovj63q