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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. Levinsohn JL, et al. Among authors: choate ka. J Invest Dermatol. 2013 Mar;133(3):827-830. doi: 10.1038/jid.2012.379. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096712 Free PMC article. No abstract available.
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. Among authors: choate ka. 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.
Improving outcomes for harlequin ichthyosis.
Milstone LM, Choate KA. Milstone LM, et al. Among authors: choate ka. J Am Acad Dermatol. 2013 Nov;69(5):808-809. doi: 10.1016/j.jaad.2013.06.017. J Am Acad Dermatol. 2013. PMID: 24124810 No abstract available.
Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis.
Damsky WE, Leventhal JS, Khalil D, Vesely MD, Craiglow BG, Milstone LM, Choate KA. Damsky WE, et al. Among authors: choate ka. Pediatr Dermatol. 2016 Mar-Apr;33(2):e140-2. doi: 10.1111/pde.12769. Epub 2016 Jan 29. Pediatr Dermatol. 2016. PMID: 26821985 Free PMC article.
135 results