Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report

Xeroderma pigmentosum group E (XP-E) is one of the least common forms of XP, a rare syndrome where patients are prone to develop skin cancer in exposed sunlight areas. XP-E patients are generally not diagnosed until they are adults due to the mild phenotype. Case presentation: two XP-E siblings, fem...

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Detalles Bibliográficos
Autores principales: de Souza Timoteo, Ana Rafaela, Pinheiro de Almeida, Isabel Cristina, Yurchenko, Andrey A, de Miranda Henriques, Sheila Ramos, de Souza Segundo, Paulo, Rajabi, Fatemeh, Nikolaev, Sergey, Petta, Tirzah Braz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422713/
https://www.ncbi.nlm.nih.gov/pubmed/37573316
http://dx.doi.org/10.1186/s12920-023-01622-8

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