Possible homozygous Waardenburg syndrome in a fetus with exencephaly

Journal Article · Mon Nov 06 00:00:00 EST 1995 · American Journal of Medical Genetics

OSTI ID:443815

This paper describes a pedigree with Waardenburg syndrome and an aborted fetus who had severe congenital malformations but no detected genetic mutations. The authors concluded that despite the fact that no homozygosity of the fetus was demonstrated, the phenotype pointed to homozygous mutations of the PAX3 gene. 17 refs., 4 figs.

• OSTI ID: 443815
• Journal Information: American Journal of Medical Genetics, Vol. 59, Issue 2; Other Information: PBD: 6 Nov 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
FETUSES
HEREDITARY DISEASES
SENSE ORGANS DISEASES
SKIN DISEASES
CONGENITAL MALFORMATIONS
KARYOTYPE
GENES
GENE MUTATIONS
GENETICS
DOMINANT MUTATIONS
PIGMENTS
PHENOTYPE