• Rev Invest Clin · Dec 2020

    Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis.

    • Samantha López-Ramírez, Yuritzi Santillán-Hernández, Eugenio Carrasco-Gerard, Agustín Rodas-Serrano, and Juan C Zenteno.
    • Genetics Program, Faculty of Medicine, Universidad Nacional Autónoma de México (UNAM) and Centro Médico Nacional "20 de Noviembre" (ISSSTE), Mexico City, Mexico.
    • Rev Invest Clin. 2020 Dec 1.

    AbstractEpidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by abnormal susceptibility to infection with b-genotype human papillomavirus (HPV) and a particular propensity to develop cutaneous malignancies. Clinical manifestations include flat, scaly, reddish hypo- and hyperpigmented macules, verruca-like papillomatous lesions, seborrheic keratosis- like lesions, and pink-red pityriasis versicolor-like lesions1.

      Pubmed     Free full text   Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?

    User can't be blank.

    Content can't be blank.

    Content is too short (minimum is 15 characters).

    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…