2013
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia
Lim YH, Ovejero D, Sugarman JS, DeKlotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Human Molecular Genetics 2013, 23: 397-407. PMID: 24006476, PMCID: PMC3869357, DOI: 10.1093/hmg/ddt429.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentChildExomeFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGene Expression Regulation, DevelopmentalGTP PhosphohydrolasesHumansHypophosphatemiaMaleMembrane ProteinsMutationNevusNevus, PigmentedOsteomalaciaProto-Oncogene Proteins p21(ras)Sequence Analysis, DNASkinSkin NeoplasmsConceptsSerum FGF23 levelsElevated serum FGF23Congenital melanocytic neviSomatic activating mutationsFGF23 levelsSerum FGF23Bone lesionsMelanocytic neviActivating mutationsElevated serum FGF23 levelsFibroblast growth factor 23Giant congenital melanocytic nevusElevated serum levelsGrowth factor 23Regulation of FGF23Bone-derived hormoneRenal phosphate wastingLarge congenital melanocytic neviDysplastic boneElevated FGF23Factor 23Serum levelsCutaneous disordersPhosphate wastingInvolved tissues
2012
Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus. Journal Of Investigative Dermatology 2012, 133: 827-830. PMID: 23096712, PMCID: PMC3556376, DOI: 10.1038/jid.2012.379.Peer-Reviewed Original Research