Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations

British Journal of Dermatology

Volumn 161, Issue 6, 2009, Pages 1391-1395

  Gruber, R ^a   Wilson, N J ^b   Smith, F J D ^b   Grabher, D ^a   Steinwender, L ^a   Fritsch, P O ^a   Schmuth, M ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b State Key Laboratory of Plant Physiology and Biochemistry   (United Kingdom)

Author keywords

Filaggrin; Genetic modifier; Keratin; Pachyonychia congenita

Indexed keywords

CYTOKERATIN 16; EMOLLIENT AGENT; ETRETINATE; FILAGGRIN; RO A VIT 10 9359; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BLISTER; CASE REPORT; CLINICAL FEATURE; CONGENITAL PACHYONYCHIA; DISEASE SEVERITY; DRUG WITHDRAWAL; FEMALE; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; ICHTHYOSIS VULGARIS; IMMUNOHISTOCHEMISTRY; INHERITANCE; LEUKOPLAKIA; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NAIL DISEASE; PAIN; PRIORITY JOURNAL; PROGENY;

AGED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; KERATIN-16; MALE; MIDDLE AGED; MUTATION; NAILS, MALFORMED; PACHYONYCHIA CONGENITA; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 72649106306     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09471.x     Document Type: Article

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