An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

Molecular Syndromology

J.F. Mazzeu¹  A.M. Vianna-Morgante¹  P.A. Otto¹  D.R. Bertola¹  C.A. Kim¹  S.S. Costa¹  L.A. Praxedes¹  F.M. Pereira¹ 

[1] aDepartamento de Genética e Biologia Evolutiva, Instituto de Biociências, Brasília, Brazil

关键词: Neurofibromatosis type I;    NF1 microdeletion;    Proteus syndrome;   

DOI  :  10.1159/000319976

学科分类：基础医学

来源: S Karger AG

【 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.

【 授权许可】

Unknown