The Journal of Investigative Dermatology Takeichi, T, Torrelo, A, Lee, J Y W, Ohno, Y, Lozano, M L, Kihara, A, Liu, L, Yasuda, Y, Ishikawa, J, Murase, T, Rodrigo, A B, Fernández-Crehuet, P, Toi, Y, Mellerio, J, Rivera, J, Vicente, V, Kelsell, D P, Nishimura, Y, Okuno, Y, Kojima, D, Ogawa, Y, Sugiura, K, Simpson, M A, McLean, W H I, Akiyama, M & McGrath, J A 2017, ' Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia ', Journal of Investigative Dermatology, vol. 137, no. 11, pp. 2344-2353 . https://doi.org/10.1016/j.jid.2017.06.028 Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid