Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2

Clinical and Experimental Dermatology

Volumn 28, Issue 4, 2003, Pages 434-436

  Ward, K M ^a   Cook Bolden, F E ^a,b   Christiano, A M ^a   Celebi J T ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; KERATIN 16; KERATIN 17; KERATIN 6A; KERATIN 6B; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL PACHYONYCHIA; CONGENITAL PACHYONYCHIA TYPE 1; CONGENITAL PACHYONYCHIA TYPE 2; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; KERATOSIS PALMOPLANTARIS; MALE; NAIL DYSTROPHY; PRIORITY JOURNAL;

ADULT; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; HUMANS; KERATINS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE; NAIL DISEASES; PEDIGREE;

EID: 0037707698     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.2003.01263.x     Document Type: Article

References (8)

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3. Terrinoni A, Smith F, Didona B et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 2001; 117: 1391-6.
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8. Covello SP, Smith FJD, Smitt JHS et al. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol 1998; 139: 475-80.