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Abstract 149: Hyperphosphatemic familial tumoral calcinosis due to homozygous mutation at Leu366Arg: First case report
Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare disabling autosomal recessive metabolic disorder characterized by hyperphosphatemia and manifestations ranging from progressive deposition of calcium phosphate crystals in the skin, soft tissues and bone, and hyperostosis. Th...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Wolters Kluwer - Medknow
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067761/ http://dx.doi.org/10.4103/2230-8210.342274 |