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Article

A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Mar 2024

Oto Yuji, Suzuki Daiki, Morita Tsubasa, Inoue Takeshi, Nitta Akihisa, Murakami Nobuyuki, Abe Yuuka, Hamada Yoshinobu, Akiyama Tomoyuki, Matsubara Tomoyo

Abstract excerpt

OBJECTIVES: Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the alkaline phosphatase (ALPL) gene. More than 400 pathogenic variants of the ALPL gene have been registered in the ALPL gene variant database. Here, we describe the case of a Japanese child with odonto-hypophsphatasia (odonto-HPP) and a novel ALPL variant. CASE PRESENTATION: At the age of 2 years and 1 month, he prematurely...

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Identifiers

PMID: 38310522
DOI: 10.1515/jpem-2023-0549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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