Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-derived hormone that regulates phosphorus homeostasis, result in renal phosphate wasting and lead to rickets or osteomalacia. Rarely, elevated serum FGF23 levels are found in association with mosaic cutaneous disorde...

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Auteurs principaux: Lim, Young H., Ovejero, Diana, Sugarman, Jeffrey S., DeKlotz, Cynthia M.C., Maruri, Ann, Eichenfield, Lawrence F., Kelley, Patrick K., Jüppner, Harald, Gottschalk, Michael, Tifft, Cynthia J., Gafni, Rachel I., Boyce, Alison M., Cowen, Edward W., Bhattacharyya, Nisan, Guthrie, Lori C., Gahl, William A., Golas, Gretchen, Loring, Erin C., Overton, John D., Mane, Shrikant M., Lifton, Richard P., Levy, Moise L., Collins, Michael T., Choate, Keith A.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2014
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3869357/
https://ncbi.nlm.nih.gov/pubmed/24006476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt429
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