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

• मुख्य लेखकों: Ana Rafaela de Souza Timoteo (लेखक), Isabel Cristina Pinheiro de Almeida (लेखक), Andrey A Yurchenko (लेखक), Sheila Ramos de Miranda Henriques (लेखक), Paulo de Souza Segundo (लेखक), Fatemeh Rajabi (लेखक), Sergey Nikolaev (लेखक), Tirzah Braz Petta (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2023-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...