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Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

Abstract:

Design: Patients with Pendred syndrome have genotypic and phenotypic variability, leading to challenges in definitive diagnosis and 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. Methods: Retrospective analysis of 50 patients with suspected Pendre...

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Publisher copy:
10.1530/eje-14-0679

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
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Journal:
European journal of endocrinology / European Federation of Endocrine Societies
Volume:
172
Issue:
2
Pages:
217-226
Publication date:
2014-11-05
DOI:
EISSN:
1479-683X
ISSN:
0804-4643
URN:
uuid:c37175b2-f200-4cde-9fcc-e417b2d05b22
Source identifiers:
489845
Local pid:
pubs:489845
Language:
English

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