James Whitworth Brian Stausbøl-Grøn Anne-Bine Skytte
10.1007/s10689-016-9928-y
Fam Cancer
2017 Jan;16(1):139-142.
birt–hogg–dubé syndrome cerebral cavernous malformation double heterozygote genetics
CC BY
https://pubmed.ncbi.nlm.nih.gov/27722904/
Birt-Hogg-Dube Syndrome / genetics Carrier Proteins / genetics Hemangioma, Cavernous, Central Nervous System / genetics Proto-Oncogene Proteins / genetics Tumor Suppressor Proteins / genetics
Birt-Hogg-Dube Syndrome / genetics Carrier Proteins / genetics Hemangioma, Cavernous, Central Nervous System / genetics Proto-Oncogene Proteins / genetics Tumor Suppressor Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Birt-Hogg-Dube Syndrome / diagnosis Female Humans Middle Aged Mutation CCM2 protein, human Carrier Proteins FLCN protein, human Proto-Oncogene Proteins Tumor Suppressor Proteins Familial cerebral cavernous malformation
PMC5243871
27722904
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report
2017