TY  - GEN
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
TI  - Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
SN  - 1523-1747
PY  - 2017///1102
KW  - Adolescent
KW  - Alcohol Oxidoreductases
KW  - genetics
KW  - Alleles
KW  - Biopsy, Needle
KW  - Ceramides
KW  - biosynthesis
KW  - Child
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Immunohistochemistry
KW  - In Vitro Techniques
KW  - Keratoderma, Palmoplantar
KW  - complications
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Prognosis
KW  - Sampling Studies
KW  - Severity of Illness Index
KW  - Thrombocytopenia
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.jid.2017.06.028
ER  -