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qAimed at dermatologists, pediatricians and family physicians, this resource can be used for both board preparation and clinical practice. Each syndrome is presented in easy-to-read, two-page spreads that include full body diagrams and clinical photographs. The material is summarized in bulleted text that lists the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, lab findings, management and prognosis. Clinical pearls are interspersed through the text. This second edition updates previous chapters and includes new syndromes, such as PHACE, AEC, EEC, Griscelli and Birt-Hogg-Dube. Annotation : 2004 Book News, Inc., Portland, OR ([source inconnue].Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. ... Kimonis VE, Goldstein AM, Pastakia B, et al. Clinical ... Clues to epidermal cancer proneness revealed by reconstruction of DNA repair-deficient xerodermaanbsp;...

Author:Joel L. Spitz
Publisher:Lippincott Williams & Wilkins - 2005


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