Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.
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.
Bento
Maria Celeste
MC
Chang
Ko Tung
KT
Guan
Yongli
Y
Liu
Enli
E
Caldas
Gabriela
G
Gatti
Richard A
RA
Prchal
Josef T
JT
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*