Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia

We report a case of a 3-year-old Saudi female patient as the first case reported in Saudi Arabia who is homozygous for dystonin c.3370C>T, p.(Gln1124*). At the age of 3 months, the girl started to develop numerous vesicles and bullae involving the dorsum of the feet that were not on a pressure si...

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Detalles Bibliográficos
Autores principales: Al Towijry, Mohammed, Alanazi, Abeer Mohammed M, Eldesoky, Fatma, Alharthi, Yousef H, Albalawi, Ibrahim Abdullah S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Dermatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487254/
https://www.ncbi.nlm.nih.gov/pubmed/37692655
http://dx.doi.org/10.7759/cureus.43206

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487254/
https://www.ncbi.nlm.nih.gov/pubmed/37692655
http://dx.doi.org/10.7759/cureus.43206

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