Article
Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations.
Bone - 1 Feb 2021
Kramer K, Chavez M B, Tran A T, Farah F, Tan M H, Kolli T N, Dos Santos E J Lira, Wimer H F, Millán J L, Suva L J, Gaddy D, Foster B L
Abstract excerpt
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 varying dental phenotypes, making it unclear how HPP comparatively affects the three unique dental mineralized tissues:...
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