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Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous nonsense variant, c.793C>T p.(Gln265*). Although the par...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10661991/ https://www.ncbi.nlm.nih.gov/pubmed/37985760 http://dx.doi.org/10.1038/s41439-023-00257-6 |