Article
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
European journal of endocrinology - 1 Feb 2015
Soh Lip Min, Druce Maralyn, Grossman Ashley B, Differ Ann-Marie, Rajput Liala, Bitner-Glindzicz Maria, Korbonits Márta
Abstract excerpt
DESIGN: Patients 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...
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