An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

[摘要] We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.

[学科分类] 基础医学

[关键词] Neurofibromatosis type I;NF1 microdeletion;Proteus syndrome