Article
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
American journal of human genetics - 9 Apr 2010
Dahlqvist Johanna, Klar Joakim, Tiwari Neha, Schuster Jens, Törmä Hans, Badhai Jitendra, Pujol Ramon, van Steensel Maurice A M, Brinkhuizen Tjinta, Brinkhuijzen Tjinta, Gijezen Lieke, Chaves Antonio, Tadini Gianluca, Vahlquist Anders, Dahl Niklas
Abstract excerpt
KLICK syndrome is a rare autosomal-recessive skin disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules, and ichthyosiform scaling. In order to establish the genetic cause of this disorder, we collected DNA samples from eight European probands. Using high-density genome-wide SNP analysis, we identified a 1.5 Mb homozygous candidate region on chromosome 13q. Sequence analysis of the ten...
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