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PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.
Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. Polubothu S, et al. Among authors: siegel d. J Invest Dermatol. 2023 Jun;143(6):1042-1051.e3. doi: 10.1016/j.jid.2022.09.661. Epub 2022 Dec 23. J Invest Dermatol. 2023. PMID: 36566878 Free PMC article.
Copy number variation analysis in 98 individuals with PHACE syndrome.
Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. Siegel DH, et al. J Invest Dermatol. 2013 Mar;133(3):677-684. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096700 Free PMC article.
Tooth enamel hypoplasia in PHACE syndrome.
Chiu YE, Siegel DH, Drolet BA, Hodgson BD. Chiu YE, et al. Among authors: siegel dh. Pediatr Dermatol. 2014 Jul-Aug;31(4):455-8. doi: 10.1111/pde.12361. Epub 2014 Jun 11. Pediatr Dermatol. 2014. PMID: 24916277
1,547 results