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

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

K. Kramer, M. B. Chavez, A.T. Tran, F. Farah, M. H. Tan, T. N. Kolli, E. J. Lira dos Santos, H. F. Wimer, J. L. Millán, L. J. Suva, D. Gaddy, B. L. Foster

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Inglês

Agradecimentos: We thank the proband and her family for their eager and willing cooperation and continued assistance with this research. We thank Dr. Heidi Steinkamp (St. Louis University, St. Louis, MO) and Dr. Priscila Alves Giovani (Department of Pediatric Dentistry, Piracicaba Dental School,...

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...

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

K. Kramer, M. B. Chavez, A.T. Tran, F. Farah, M. H. Tan, T. N. Kolli, E. J. Lira dos Santos, H. F. Wimer, J. L. Millán, L. J. Suva, D. Gaddy, B. L. Foster


										

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

K. Kramer, M. B. Chavez, A.T. Tran, F. Farah, M. H. Tan, T. N. Kolli, E. J. Lira dos Santos, H. F. Wimer, J. L. Millán, L. J. Suva, D. Gaddy, B. L. Foster

    Fontes

    Bone

    Vol. 143 (Feb., 2021), n. art. 115732