A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene

Hypophosphatasia (HPP) is caused by inactivating variants of the ALPL gene, which encodes tissue non-specific alkaline phosphatase (TNSALP). Among the six subtypes of HPP, childhood HPP presents after 6 months and before 18 yr of age, and is inherited in both autosomal dominant and autosomal recessi...

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Detalles Bibliográficos
Autores principales: Tachikawa, Kanako, Yamazaki, Miwa, Michigami, Toshimi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288296/
https://www.ncbi.nlm.nih.gov/pubmed/37362163
http://dx.doi.org/10.1297/cpe.2023-0019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288296/
https://www.ncbi.nlm.nih.gov/pubmed/37362163
http://dx.doi.org/10.1297/cpe.2023-0019

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