Add to ORKGBirt-Hogg-Dubé (BHD) syndrome is an inherited kidney cancer syndrome that is characterized by benign hair follicle tumors, lung cysts, spontaneous pneumothorax, and an increased risk of renal neoplasia ( 1 – 3). We previously identified germline muta-tions in the BHD gene, which is located at chromosome 17p11.2, in BHD patients ( 4). Nearly all BHD mutations are frameshift or nonsense mutations that are predicted to prematurely trun-cate the BHD protein, folliculin (FLCN) ( 4 – 7). BHD patients most frequently develop bilateral multifocal chromophobe renal tumors and renal oncocytic hybrid tumors with features of chro-mophobe renal carcinoma and renal oncocytoma ( 8 – 10). Somatic mutations in the remaining wild-type copy of BHD and loss o...
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN...
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mut...
Patients suffering from a rare genetic disease called Birt-Hogg-Dubé (BHD) syndrome are at increased...
Birt-Hogg-Dubé (BHD) syndrome is an inherited kidney cancer syndrome that is characterized by benign...
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin ...
AbstractBirt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair folli...
Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair fol...
Birt–Hogg–Dube ́ (BHD) syndrome is an inherited cancer susceptibility disease characterized by skin ...
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fi...
Most cancer occurs as a sporadic disease, in which gene mutations or genomics alterations that cause...
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited condition, which predisposes to the development of...
Abstract Germline mutation of the FLCN gene causes Birt–Hogg–Dube ́ syndrome (BHD), a rare autosomal...
The Birt-Hogg-Dubé (BHD) syndrome is an inherited genodermatosis char-acterized by a predisposition...
The research in this thesis consists of cohort studies, rare cases and novel genes for Birt-Hogg-Dub...
Rationale: Birt–Hogg–Dube ́ (BHD) syndrome, a rare inherited autosomal genodermatosis first recognis...
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN...
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mut...
Patients suffering from a rare genetic disease called Birt-Hogg-Dubé (BHD) syndrome are at increased...
Birt-Hogg-Dubé (BHD) syndrome is an inherited kidney cancer syndrome that is characterized by benign...
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin ...
AbstractBirt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by hair folli...
Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair fol...
Birt–Hogg–Dube ́ (BHD) syndrome is an inherited cancer susceptibility disease characterized by skin ...
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fi...
Most cancer occurs as a sporadic disease, in which gene mutations or genomics alterations that cause...
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited condition, which predisposes to the development of...
Abstract Germline mutation of the FLCN gene causes Birt–Hogg–Dube ́ syndrome (BHD), a rare autosomal...
The Birt-Hogg-Dubé (BHD) syndrome is an inherited genodermatosis char-acterized by a predisposition...
The research in this thesis consists of cohort studies, rare cases and novel genes for Birt-Hogg-Dub...
Rationale: Birt–Hogg–Dube ́ (BHD) syndrome, a rare inherited autosomal genodermatosis first recognis...
Background: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN...
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mut...
Patients suffering from a rare genetic disease called Birt-Hogg-Dubé (BHD) syndrome are at increased...