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Article

Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report.

The Journal of clinical pediatric dentistry - 1 Jul 2023

Jiang Jing, Li Hongwen, Kong Haiying, Zeng Xianhai, Gou Lingshan, Xu Jian

Abstract excerpt

Hypophosphatasia (HPP) is a rare genetic disorder mainly characterized by skeletal dysplasia that results from a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP), which is encoded by the alkaline phosphatase (ALPL) gene. Odontohypophosphatasia (odonto-HPP) is a mild form of HPP characterized by oral symptoms, such as premature loss of primary teeth. This study was to describe a 4-year-old boy with...

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Identifiers

PMID: 37408354
DOI: 10.22514/jocpd.2023.041

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