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Quoted phrase not found in phrase index: "Keratosis palmoplantaris striata 3"
Page 1
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.
Bergman R, Hershkovitz D, Fuchs D, Indelman M, Gadot Y, Sprecher E. Bergman R, et al. J Am Acad Dermatol. 2010 Jan;62(1):107-113. doi: 10.1016/j.jaad.2009.05.016. J Am Acad Dermatol. 2010. PMID: 20082890
OBJECTIVE: We sought to characterize the histopathological findings in PPKs associated with mutations in DSG1, which encodes desmoglein 1. METHODS: We studied the histopathology of 3 cases of keratosis palmoplantaris striata type I and one case of diff …
OBJECTIVE: We sought to characterize the histopathological findings in PPKs associated with mutations in DSG1, which encodes desmoglein 1. M …
Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.
Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C. Khan MI, et al. Genes Genomics. 2018 Jul;40(7):789-795. doi: 10.1007/s13258-018-0695-z. Epub 2018 May 2. Genes Genomics. 2018. PMID: 29934816
This variant was not found in our in-house 219 ethnically matched Pakistani unaffected controls and showed minor allele frequency of 3.4 10(-5) in Exome Aggregation Consortium database containing exome data of 59,464 worldwide individuals. It was assigned as "pathogenic" b …
This variant was not found in our in-house 219 ethnically matched Pakistani unaffected controls and showed minor allele frequency of 3 …
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.
Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E. Keren H, et al. Arch Dermatol. 2005 May;141(5):625-8. doi: 10.1001/archderm.141.5.625. Arch Dermatol. 2005. PMID: 15897387
BACKGROUND: Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata. OBSERVATIONS: We describe a family affected with a diffuse nonstriated form of palmo …
BACKGROUND: Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant k …
2 Cases of hereditary palmoplantar keratoderma. An abnormality of keratohyalin granules and keratin fibril formation.
Tezuka T. Tezuka T. Dermatologica. 1984;169(3):138-45. Dermatologica. 1984. PMID: 6207058
2 cases of hereditary palmoplantar keratoderma (Unna-Thost type and keratosis palmoplantaris striata s. linearis type) are reported. In the former, moderate hyperkeratosis and a partial decrease in the stratum granulosum were histologically seen. ...In the la …
2 cases of hereditary palmoplantar keratoderma (Unna-Thost type and keratosis palmoplantaris striata s. linearis type) …