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GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation.
Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D; Yale Center for Mendelian Genomics; McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA. Lim YH, et al. Am J Hum Genet. 2016 Aug 4;99(2):443-50. doi: 10.1016/j.ajhg.2016.06.010. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476652 Free PMC article.
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. Lim YH, et al. Hum Mol Genet. 2014 Jan 15;23(2):397-407. doi: 10.1093/hmg/ddt429. Epub 2013 Sep 4. Hum Mol Genet. 2014. PMID: 24006476 Free PMC article.
Revertant mosaicism in genodermatoses.
Lim YH, Fisher JM, Choate KA. Lim YH, et al. Cell Mol Life Sci. 2017 Jun;74(12):2229-2238. doi: 10.1007/s00018-017-2468-2. Epub 2017 Feb 6. Cell Mol Life Sci. 2017. PMID: 28168442 Free PMC article. Review.
664 results