Germ-line mosaicism in Waardenburg syndrome.
A family with three children with Waardenburg syndrome born to normal, unrelated parents is reported. This appears to be the first report suggesting germ-line mosaicism in Waardenburg syndrome.
Kapur
S
S
Department of Pediatrics/Human Development, Genetics Clinic, Michigan State University, East Lansing.
Karam
S
S
D000328:Adult; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology