Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
常染色体隐性 SASH1 变异与一种新的遗传性皮肤病有关,该病伴有色素沉着缺陷、掌跖角化病和皮肤癌
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/ejhg.2014.213
Jean-Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, Mariam Tajir, Jean-Baptiste Rivière, Julien Thevenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, Emilie Courcet-Degrolard, Marie-Hélène Aubriot-Lorton, Laurent Martin, Jamal Eddin Abrid, Chri