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Page 1
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM. Lilly E, et al. Among authors: choate ka. J Am Acad Dermatol. 2019 Mar;80(3):617-625. doi: 10.1016/j.jaad.2018.09.042. Epub 2018 Oct 2. J Am Acad Dermatol. 2019. PMID: 30287322 Free PMC article.
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA. Sun Q, et al. JAMA Dermatol. 2022 Jan 1;158(1):16-25. doi: 10.1001/jamadermatol.2021.4242. JAMA Dermatol. 2022. PMID: 34851365 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. 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.
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA. Craiglow BG, et al. Among authors: choate ka. J Am Acad Dermatol. 2018 Sep;79(3):487-494. doi: 10.1016/j.jaad.2018.02.034. Epub 2018 Mar 1. J Am Acad Dermatol. 2018. PMID: 29477734 Free PMC article.
154 results