Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations

ALPL encodes tissue-nonspecific alkaline phosphatase (TNAP), an enzyme expressed in bone, teeth, liver, and kidney. ALPL loss-of-function mutations cause hypophosphatasia (HPP), an inborn error-of-metabolism that produces skeletal and dental mineralization defects. Case reports describe widely varyi...

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Dades bibliogràfiques
Publicat a:Bone
Autors principals: Kramer, K., Chavez, M.B., Tran, A.T., Farah, F., Tan, M.H., Kolli, T.N., Lira dos Santos, E.J., Wimer, H.F, Millán, J.L., Suva, L.J., Gaddy, D., Foster, B.L.
Format: Artigo
Idioma:Inglês
Publicat: 2020
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7769999/
https://ncbi.nlm.nih.gov/pubmed/33160095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2020.115732
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