Article
Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
Journal of medical genetics - 1 Apr 1994
Zonana J, Jones M, Clarke A, Gault J, Muller B, Thomas N S
Abstract excerpt
Hypohidrotic ectodermal dysplasia (EDA) has been localised to the q12-q13.1 region of the X chromosome by both physical and genetic mapping methods. Although linkage analysis using closely linked flanking markers can clarify the carrier status for many females at risk for the disorder, knowledge...
Topics
- Adult
- Child
- DNA Mutational Analysis
- Ectodermal Dysplasia
- Female
- Genetic Counseling
- Genetic Markers
- Haplotypes
- Humans
- Male
- Mutation
- Oogenesis
- Pedigree
- Point Mutation
- Polymorphism, Genetic
- Sequence Deletion
- Spermatogenesis
- X Chromosome