A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, inherited autosomal recessive disorder caused by fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or Klotho (KL) gene variants. Here, we report the case of a Japanese boy who presented with a mass in hi...

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Detalles Bibliográficos
Autores principales: Nishimura-Kinoshita, Naoko, Ohata, Yasuhisa, Sawai, Hiromi, Izawa, Masako, Takeyari, Shinji, Kubota, Takuo, Omae, Yosuke, Ozono, Keiichi, Tokunaga, Katsushi, Hamajima, Takashi
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/PMC10288290/
https://www.ncbi.nlm.nih.gov/pubmed/37362161
http://dx.doi.org/10.1297/cpe.2022-0071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288290/
https://www.ncbi.nlm.nih.gov/pubmed/37362161
http://dx.doi.org/10.1297/cpe.2022-0071

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