Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
- 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.
- Montrer des auteurs +
ISSN: 1523-1747, 0022-202X
Année de publication: 2017
Volumen: 137
Número: 11
Pages: 2344-2353
Type: Article