Article
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
Human molecular genetics - 15 Jan 2014
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
Abstract excerpt
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 disorders that affect large proportions of the skin and appear in patterns corresponding to the migration of ectodermal...
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