تحميل...
Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare fibroblast growth factor-23-independent disorder caused by biallelic variants in the SLC34A3 gene. The disease severity varies, and patients have an increased risk of developing renal complications. Phosphate supplementation is...
محفوظ في:
| المؤلفون الرئيسيون: | , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Pediatric Endocrinology and Diabetes Society
2025-09-01
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| سلاسل: | JCRPE |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.jcrpe.org/articles/novel-variant-of-lessemgreaterslc34a3lessemgreater-in-a-compound-heterozygous-brazilian-girl-with-hereditary-hypophosphatemic-rickets-with-hypercalciuria/doi/jcrpe.galenos.2023.2023-5-2 |
| الوسوم: |
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