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

• Main Authors: Ana Rafaela de Souza Timoteo (Author), Isabel Cristina Pinheiro de Almeida (Author), Andrey A Yurchenko (Author), Sheila Ramos de Miranda Henriques (Author), Paulo de Souza Segundo (Author), Fatemeh Rajabi (Author), Sergey Nikolaev (Author), Tirzah Braz Petta (Author)
• Format: Book
• Published: BMC, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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: tw...