Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a 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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Pediatric Endocrinology
2015-03-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-20-59.pdf |