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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafne...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Society of Pediatric Endocrinology
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397275/ https://www.ncbi.nlm.nih.gov/pubmed/25883929 http://dx.doi.org/10.6065/apem.2015.20.1.59 |