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Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation
Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. There is a large continuum in the severity, ranging from a lethal perinatal form to dental issues. We analyzed a cohort of 424 HPP patients from European geographic origin or ancestry. Using 3D modeling and results of function...
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| Veröffentlicht in: | Eur J Hum Genet |
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| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer International Publishing
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7868366/ https://ncbi.nlm.nih.gov/pubmed/32973344 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00732-6 |
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