Article
Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.
Human molecular genetics - 1 Jul 1993
Pasteris N G, Trask B J, Sheldon S, Gorski J L
Abstract excerpt
Waardenburg syndrome (WS), the most common form of inherited congenital deafness, is a pleiotropic, autosomal dominant condition with variable penetrance and expressivity. WS is clinically and genetically heterogeneous. The basis for the phenotypic variability observed among and between WS famili...
Topics
- Bone and Bones
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 2
- Cleft Palate
- Female
- Genes, Dominant
- Genes, Homeobox
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Male
- Microcephaly
- Pedigree
- Phenotype
- Waardenburg Syndrome