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Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management
Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the ALPL gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth and multi-systemic complications. Inheritance may...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578550/ https://www.ncbi.nlm.nih.gov/pubmed/33101980 http://dx.doi.org/10.1016/j.ymgmr.2020.100661 |