KLICK syndrome is an autosomal recessive epidermal disorder caused by mutations of the POMP gene.
1. |
Dahlqvist J et. al. (2010) A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. |
2. |
Pujol RM et. al. (1989) Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma. |
3. |
Vahlquist A et. al. (1997) Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation? |