About: Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma     Goto   Sponge   NotDistinct   Permalink

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Description
  • Recently, Kazakov et al permormed a clinicopathologic and genotypic analysis on a series of 16 patients suffering from multiple (familial) trichoepitheliomas (MFT: MIM 601606) and found mutations in the CYLD gene in 46%.
  • Recently, Kazakov et al permormed a clinicopathologic and genotypic analysis on a series of 16 patients suffering from multiple (familial) trichoepitheliomas (MFT: MIM 601606) and found mutations in the CYLD gene in 46%. (en)
Title
  • Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma
  • Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma (en)
skos:prefLabel
  • Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma
  • Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma (en)
skos:notation
  • RIV/00669806:_____/11:10103116!RIV12-MZ0-00669806
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  • 6
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  • 226008
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  • RIV/00669806:_____/11:10103116
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  • multiple familial trichoepithelioma; CYLD nonsense mutation (en)
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  • US - Spojené státy americké
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  • [D112DE80FBD7]
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  • American Journal of Dermatopathology
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  • 33
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  • Kazakov, Dmitry
  • Vaněček, Tomáš
  • Carlson, J. Andrew
  • Linos, Konstantinos
  • Schwartz, Joseph
http://linked.open...ain/vavai/riv/wos
  • 000293060800025
issn
  • 0193-1091
number of pages
http://bibframe.org/vocab/doi
  • 10.1097/DAD.0b013e318209070a
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