Article
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
American journal of human genetics - 1 Jun 2017
Boyden Lynn M, Vincent Nicholas G, Zhou Jing, Hu Ronghua, Craiglow Brittany G, Bayliss Susan J, Rosman Ilana S, Lucky Anne W, Diaz Luis A, Goldsmith Lowell A, Paller Amy S, Lifton Richard P, Baserga Susan J, Choate Keith A
Abstract excerpt
The discovery of new genetic determinants of inherited skin disorders has been instrumental to the understanding of epidermal function, differentiation, and renewal. Here, we show that mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetric erythrokeratoderma spectrum....
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