Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
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D. Kelsell | M. Simpson | M. Akiyama | Y. Okuno | A. Kihara | V. Vicente | T. Murase | J. Mellerio | A. Torrelo | Lu Liu | T. Takeichi | D. Kojima | Y. Ogawa | K. Sugiura | M. Lozano | J. Rivera | Yuka Yasuda | P. Fernández-Crehuet | J. Y. Lee | A. Rodrigo | Y. Toi | J. Ishikawa | Yutaka Nishimura | J. McGrath | Yusuke Ohno | W. Mclean