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2010 | 1 |
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?
Acta Derm Venereol. 1997 May;77(3):225-7. doi: 10.2340/0001555577225227.
Acta Derm Venereol. 1997.
PMID: 9188877
Free article.
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
Dahlqvist J, Klar J, Tiwari N, Schuster J, Törmä H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N.
Dahlqvist J, et al.
Am J Hum Genet. 2010 Apr 9;86(4):596-603. doi: 10.1016/j.ajhg.2010.02.018. Epub 2010 Mar 11.
Am J Hum Genet. 2010.
PMID: 20226437
Free PMC article.
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