Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.
Campione
Elena
E
Terrinoni
Alessandro
A
Orlandi
Augusto
A
Codispoti
Andrea
A
Melino
Gerry
G
Bianchi
Luca
L
Mazzotta
Annamaria
A
Garaci
Francesco Giuseppe
FG
Ludovici
Andrea
A
Chimenti
Sergio
S
D000328:Adult; D005192:Family Health; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D006392:Hemangioma, Cavernous / Q000235:genetics*; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*
D005649:Fumarate Hydratase