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...

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Detalles Bibliográficos
Autores principales: Reibel, Amélie, Manière, Marie-Cécile, Clauss, François, Droz, Dominique, Alembik, Yves, Mornet, Etienne, Bloch-Zupan, Agnès
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research
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

Internet

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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