title: Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.
abstract: We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset.
authors.forename: Maria Celeste
authors.initials: MC
authors.lastname: Bento
authors.forename: Ko Tung
authors.initials: KT
authors.lastname: Chang
authors.forename: Yongli
authors.initials: Y
authors.lastname: Guan
authors.forename: Enli
authors.initials: E
authors.lastname: Liu
authors.forename: Gabriela
authors.initials: G
authors.lastname: Caldas
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gatti
authors.forename: Josef T
authors.initials: JT
authors.lastname: Prchal
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D016147:Genes, Tumor Suppressor; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D011086:Polycythemia / Q000151:congenital* / Q000235:genetics*; D044465:White People / Q000235:genetics*