Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort
IntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failure to thrive, fragility fractures, bone deformiti...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Frontiers Media S.A.
2026-01-01
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| سلاسل: | Frontiers in Genetics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1715818/full |
| الوسوم: |
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