Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).
推出的年份: 2011
副标题
树号: C04.700.212, C16.320.700.212
MeSH 单一 ID: D058249
进入的组:
Birt Hogg Dube Syndrome
Hornstein-Knickenberg Syndrome
Hornstein-Birt-Hogg-Dubé Syndrome
Fibrofolliculomas with Trichodiscomas and Acrochordons
留言 (0)