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Results 1 - 10 of 11 for "keratoderma," palmoplantar OR tyrosinemia type 2
  1. KRT6C gene 
    ... in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. J Invest Dermatol. 2010 Feb;130(2):336-8. doi: 10.1038/jid.2009.395. Citation on PubMed Takahashi K, Paladini RD, Coulombe PA. Cloning ... and cDNAs encoding highly related type II keratin 6 isoforms. J Biol Chem. 1995 ...
    https://medlineplus.gov/genetics/gene/krt6c - Genetics
  2. GJA1 gene 
    ... disorder are usually present in one of the two copies of the gene in each cell. ... keratoderma. Palmoplantar keratoderma is a condition that causes skin ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  3. KRT1 gene 
    ... KERATODERMA, EPIDERMOLYTIC, 1; EPPK1 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM PALMOPLANTAR ... of human skin and its appendages. Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. doi: 10.1016/j.abb.2010. ...
    https://medlineplus.gov/genetics/gene/krt1 - Genetics
  4. KRT16 gene 
    ... Biochem Biophys Res Commun. 1995 Oct 13;215(2):517-23. doi: ... type 1 and focal palmoplantar keratoderma. Exp Dermatol. 2000 Jun;9(3):170-7. ...
    https://medlineplus.gov/genetics/gene/krt16 - Genetics
  5. MT-TS1 gene 
    ... Ghodsian N, Maw MA. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet. 1998 Jan 13;75(2):179-85. Citation on PubMed Toompuu M, Yasukawa ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  6. DSC2 gene 
    ... Behr ER, Crosby AH. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology. 2009;113(1):28- ...
    https://medlineplus.gov/genetics/gene/dsc2 - Genetics
  7. KANK2 gene 
    ... has been found to cause a form of keratoderma with woolly hair classified as type IV. It is characterized by thick, calloused skin on the palms of the hands and soles of the feet (palmoplantar keratoderma); coarse, dry, fine, tightly curled, and sparse ...
    https://medlineplus.gov/genetics/gene/kank2 - Genetics
  8. JUP gene 
    ... have been found to cause a form of keratoderma with woolly hair classified as type I. ... keratoderma); coarse, dry, fine, tightly curled, and sometimes ...
    https://medlineplus.gov/genetics/gene/jup - Genetics
  9. GJB2 gene 
    ... skin's outermost layer, the epidermis. ... of the feet (palmoplantar keratoderma), wart-like growths (knuckle pads) on the knuckles ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  10. ENPP1 gene 
    ... hands and the soles of the feet (punctate palmoplantar keratoderma).The ENPP1 gene mutations that cause Cole disease ... has been associated with an increased risk of type 2 diabetes (the most common form of diabetes). Type ...
    https://medlineplus.gov/genetics/gene/enpp1 - Genetics
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