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 | J. McGrath | Y. Okuno | A. Kihara | V. Vicente | W. McLean | T. Murase | J. Mellerio | Y. Ohno | 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
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