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A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
Hypoparathyroidism, deafness, and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease, inherited dominantly and found to be related with GATA3 (GATA binding protein 3) gene mutations. A 13-year and 8-month-old boy who presented with hypocalcemia was diagnosed with hypoparathyroidism. He al...
में बचाया:
| में प्रकाशित: | J Clin Res Pediatr Endocrinol |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Galenos Publishing
2015
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4805226/ https://ncbi.nlm.nih.gov/pubmed/26777049 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2249 |
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