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Delayed diagnosis of Pendred syndrome

We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of hearing loss from childhood and presented to the endocrine clinic when aged 32 with an enlarging goitre. The characteristic Mondini deformity was noted on auditory canal MRI scan. Genetic tests confirmed the...

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Foilsithe in:BMJ Case Rep
Main Authors: Smith, Natalie, U-King-Im, Jean-Marie, Karalliedde, Janaka
Formáid: Artigo
Teanga:Inglês
Foilsithe: BMJ Publishing Group 2016
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5030599/
https://ncbi.nlm.nih.gov/pubmed/27620717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-215271
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