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Updated: Sep 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Variante de empalme DSG1 identificado en una familia con queratoderma palmoplantar estriado no sindrómico

Sohail Ahmed1,2, Nicole Cesarato1, Ye Li1

  • 1Institute of Human Genetics, Medical Faculty and University Hospital Bonn, University of Bonn, Bonn, Germany.

The Journal of dermatology
|August 29, 2025
PubMed
Resumen

Identificamos una variante homocigótica en el gen Desmoglein 1 (DSG1) que causa queratoderma palmoplantar hereditario leve (PPK). Este hallazgo amplía los conocidos trastornos de diferenciación epidermal palmoplantar (PEDD) relacionados con DSG1 y destaca la variabilidad genotipo-fenotipo.

Palabras clave:
Desmogleína y sus derivadosvariación biológicaSecuenciación del exomaQueratoderma palmoplantar también conocido como queratoderma palmonarel empalme

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