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...

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Detalles Bibliográficos
Autores principales: Niida, Yo, Kobayashi, Azusa, Togi, Sumihito, Ura, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
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

Internet

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

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