title: Single base mutation in the fumarate hydratase gene leading to segmental cutaneous leiomyomatosis.
authors.forename: Eva
authors.initials: E
authors.lastname: Huter
authors.forename: Noel C
authors.initials: NC
authors.lastname: Wortham
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Hartschuh
authors.forename: Alexander
authors.initials: A
authors.lastname: Enk
authors.forename: Uta
authors.initials: U
authors.lastname: Jappe
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D006801:Humans; D018231:Leiomyomatosis / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D005649:Fumarate Hydratase