Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
- Resource Type
- Article
- Authors
- Takeichi, Takuya; Torrelo, Antonio; Lee, John Y.W.; Ohno, Yusuke; Lozano, María Luisa; Kihara, Akio; Liu, Lu; Yasuda, Yuka; Ishikawa, Junko; Murase, Takatoshi; Rodrigo, Ana Belén; Fernández-Crehuet, Pablo; Toi, Yoichiro; Mellerio, Jemima; Rivera, José; Vicente, Vicente; Kelsell, David P.; Nishimura, Yutaka; Okuno, Yusuke; Kojima, Daiei; Ogawa, Yasushi; Sugiura, Kazumitsu; Simpson, Michael A.; McLean, W.H. Irwin; Akiyama, Masashi; McGrath, John A.
- Source
- In Journal of Investigative Dermatology November 2017 137(11):2344-2353
- Subject
- Language
- ISSN
- 0022-202X