Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

Takeichi, Takuya

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. [electronic resource] - The Journal of investigative dermatology 11 2017 - 2344-2353 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1523-1747

10.1016/j.jid.2017.06.028 doi


Adolescent
Alcohol Oxidoreductases--genetics
Alleles
Biopsy, Needle
Ceramides--biosynthesis
Child
Genetic Predisposition to Disease
Humans
Immunohistochemistry
In Vitro Techniques
Keratoderma, Palmoplantar--complications
Male
Mutation
Pedigree
Prognosis
Sampling Studies
Severity of Illness Index
Thrombocytopenia--complications
Young Adult