Next-Generation Sequencing Identifies a Homozygous Nonsense

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.

Epidermodysplasia 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.

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- 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.

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

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

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