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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
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 |