Cargando…
A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
|
| Materias: | |
| 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 |
| _version_ | 1783432540984442880 |
|---|---|
| author | Tryon, Rebecca K. Tolar, Jakub Preusser, Sarah M. Riddle, Megan J. Keene, Douglas R. Bower, Matthew Thyagarajan, Bharat Ebens, Christen L. |
| author_facet | Tryon, Rebecca K. Tolar, Jakub Preusser, Sarah M. Riddle, Megan J. Keene, Douglas R. Bower, Matthew Thyagarajan, Bharat Ebens, Christen L. |
| author_sort | Tryon, Rebecca K. |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6610641 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-66106412019-07-16 A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex Tryon, Rebecca K. Tolar, Jakub Preusser, Sarah M. Riddle, Megan J. Keene, Douglas R. Bower, Matthew Thyagarajan, Bharat Ebens, Christen L. JAAD Case Rep Case Report Elsevier 2019-06-26 /pmc/articles/PMC6610641/ /pubmed/31312705 http://dx.doi.org/10.1016/j.jdcr.2019.03.025 Text en © 2019 by the American Academy of Dermatology, Inc. Published by Elsevier, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Case Report Tryon, Rebecca K. Tolar, Jakub Preusser, Sarah M. Riddle, Megan J. Keene, Douglas R. Bower, Matthew Thyagarajan, Bharat Ebens, Christen L. A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex |
| title | A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex |
| title_full | A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex |
| title_fullStr | A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex |
| title_full_unstemmed | A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex |
| title_short | A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex |
| title_sort | homozygous frameshift variant in the krt5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex |
| topic | Case Report |
| url | 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 |
| work_keys_str_mv | AT tryonrebeccak ahomozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT tolarjakub ahomozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT preussersarahm ahomozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT riddlemeganj ahomozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT keenedouglasr ahomozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT bowermatthew ahomozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT thyagarajanbharat ahomozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT ebenschristenl ahomozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT tryonrebeccak homozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT tolarjakub homozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT preussersarahm homozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT riddlemeganj homozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT keenedouglasr homozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT bowermatthew homozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT thyagarajanbharat homozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex AT ebenschristenl homozygousframeshiftvariantinthekrt5geneiscompatiblewithlifeandresultsinsevererecessiveepidermolysisbullosasimplex |