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...

Source: BMC Medical Genomics - August 12, 2023 Category: Genetics & Stem Cells Authors: Ana Rafaela de Souza Timoteo, Isabel Cristina Pinheiro de Almeida, Andrey A Yurchenko, Sheila Ramos de Miranda Henriques, Paulo de Souza Segundo, Fatemeh Rajabi, Sergey Nikolaev and Tirzah Braz Petta Tags: Case report Source Type: research