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

Hee Lim, Young; Ovejero, Diana; Sugarman, Jeffrey; Marie Carver DeKlotz, Cynthia; Maruri, Ann; F. Eichenfield, Lawrence; Kelley, Patrick; Jüppner, Harald; Gottschalk, Michael; J. Tifft, Cynthia; I. Gafni, Rachel; M. Boyce, Alison; W. Cowen, Edward; Bhattacharyya, Nisan; C. Guthrie, Lori; A. Gahl, William; Golas, Gretchen; Loring, Erin; D. Overton, John; Mane, Shrikant; P. Lifton, Richard; L. Levy, Moise; T. Collins, Michael; A. Choate, Keith

doi:10.1093/hmg/ddt429

Public

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

Published in Human Molecular Genetics • Sep 4, 2013

Authors:

Young Hee Lim

Diana Ovejero

Jeffrey Sugarman

Abstract

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...

Subject

Biology

HRAS

Fibroblast growth factor 23

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