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Results 1 - 10 of 23 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. Keratoderma with woolly hair 
    ... the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as ... Behr ER, Crosby AH. Homozygous mutation of desmocollin-2 in arrhythmogenic ... mild palmoplantar keratoderma and woolly hair. Cardiology. 2009;113(1):28- ...
    https://medlineplus.gov/.../condition/keratoderma-with-woolly-hair - Genetics
  7. Charcot-Marie-Tooth disease 
    ... 1A; CMT1A CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  8. Familial pityriasis rubra pilaris 
    ... thick, hard, and callused, a condition known as palmoplantar keratoderma.Researchers have distinguished six types of pityriasis rubra pilaris based on the features ...
    https://medlineplus.gov/.../familial-pityriasis-rubra-pilaris - Genetics
  9. 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
  10. Palmoplantar keratoderma with deafness 
    ... can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am J Med Genet A. 2005 Aug 30;137(2):225-7. doi: 10.1002/ajmg.a.30765. ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
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