Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis

BACKGROUND/OBJECTIVE: Tumoral calcinosis (TC) is a rare, arcane, and debilitating disorder of phosphate metabolism manifesting as hard masses in soft tissues. Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO. We report a...

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Detalles Bibliográficos
Autores principales: Leow, Melvin Khee Shing, Ang, Joshur, Bi, Xinyan, Koh, Ee Tzun, McFarlane, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509374/
https://www.ncbi.nlm.nih.gov/pubmed/37736313
http://dx.doi.org/10.1016/j.aace.2023.05.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509374/
https://www.ncbi.nlm.nih.gov/pubmed/37736313
http://dx.doi.org/10.1016/j.aace.2023.05.004

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