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Pendred syndrome with hyperthyroidism
Objectives: Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the SLC26A4/PDS gene. Thyroid function is generally reported as euthyroid or hypothyroid in this condition. We present a case...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Japanese Association of Rural Medicine
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530597/ https://www.ncbi.nlm.nih.gov/pubmed/33033545 http://dx.doi.org/10.2185/jrm.2020-011 |