A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex

Detalles Bibliográficos
Autores principales: Tryon, Rebecca K., Tolar, Jakub, Preusser, Sarah M., Riddle, Megan J., Keene, Douglas R., Bower, Matthew, Thyagarajan, Bharat, Ebens, Christen L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610641/
https://www.ncbi.nlm.nih.gov/pubmed/31312705
http://dx.doi.org/10.1016/j.jdcr.2019.03.025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610641/
https://www.ncbi.nlm.nih.gov/pubmed/31312705
http://dx.doi.org/10.1016/j.jdcr.2019.03.025

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