A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.
Frisén
L
L
Department of Molecular Medicine, Karolinska Institutet, Karolinska Hospital, SE-17176 Stockholm, Sweden.
Lagerstedt
K
K
Tapper-Persson
M
M
Kockum
I
I
Nordenskjöld
A
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005530:Foot Deformities / Q000473:pathology*; D020440:Gene Duplication; D006226:Hand Deformities / Q000473:pathology*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000473:pathology*; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
D018398:Homeodomain Proteins; C099959:homeobox protein HOXA13; D004247:DNA