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Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
BACKGROUND: Hypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL). The symptoms are highly variable in their clinical expression, and relate to numerou...
Autores principales: | Reibel, Amélie, Manière, Marie-Cécile, Clauss, François, Droz, Dominique, Alembik, Yves, Mornet, Etienne, Bloch-Zupan, Agnès |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654544/ https://www.ncbi.nlm.nih.gov/pubmed/19232125 http://dx.doi.org/10.1186/1750-1172-4-6 |
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