Germ-line mosaicism in Waardenburg syndrome
- 28 June 2008
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 39 (3) , 194-198
- https://doi.org/10.1111/j.1399-0004.1991.tb03011.x
Abstract
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.Keywords
This publication has 8 references indexed in Scilit:
- Sperm chromosome analysis to assess potential germ cell mosaicismClinical Genetics, 1988
- Germinal mosaicism in Crouzon syndromeClinical Genetics, 1988
- Genetic counselling in unexpected familial recurrence of achondroplasiaAmerican Journal of Medical Genetics, 1987
- A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected maleNature, 1987
- Germline mosaicism and Duchenne muscular dystrophy mutationsNature, 1987
- Gonadal mosaicism in pseudoachondroplasiaAmerican Journal of Medical Genetics, 1987
- Germinal mosaicism in Apert syndromeClinical Genetics, 1986
- White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndromeThe Journal of Pediatrics, 1981