TY  - JOUR
AU  - Takeichi, Takuya
AU  - Torrelo, Antonio
AU  - Lee, John Y W
AU  - Ohno, Yusuke
AU  - Lozano, María Luisa
AU  - Kihara, Akio
AU  - Liu, Lu
AU  - Yasuda, Yuka
AU  - Ishikawa, Junko
AU  - Murase, Takatoshi
AU  - Rodrigo, Ana Belén
AU  - Fernández-Crehuet, Pablo
AU  - Toi, Yoichiro
AU  - Mellerio, Jemima
AU  - Rivera, José
AU  - Vicente, Vicente
AU  - Kelsell, David P
AU  - Nishimura, Yutaka
AU  - Okuno, Yusuke
AU  - Kojima, Daiei
AU  - Ogawa, Yasushi
AU  - Sugiura, Kazumitsu
AU  - Simpson, Michael A
AU  - McLean, W H Irwin
AU  - Akiyama, Masashi
AU  - McGrath, John A
PY  - 2017
DO  - 10.1016/j.jid.2017.06.028
UR  - http://hdl.handle.net/10668/11472
T2  - The Journal of investigative dermatology
AB  - Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in...
LA  - en
KW  - Adolescent
KW  - Alcohol Oxidoreductases
KW  - Alleles
KW  - Biopsy, Needle
KW  - Ceramides
KW  - Child
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Immunohistochemistry
KW  - In Vitro Techniques
KW  - Keratoderma, Palmoplantar
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Prognosis
KW  - Sampling Studies
KW  - Severity of Illness Index
KW  - Thrombocytopenia
KW  - Young Adult
TI  - Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
TY  - research article
VL  - 137
ER  -