Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp
HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene. We present a case of a 56-year-old male diagnosed with hypoparathyr...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
Bioscientifica
2024-12-01
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| মালা: | Endocrinology, Diabetes & Metabolism Case Reports |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://edm.bioscientifica.com/view/journals/edm/2024/4/EDM-24-0020.xml |
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