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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 |
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| Main Authors: | , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BMJ Publishing Group
2016
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| 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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