Article
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
Journal of medical genetics - 1 Feb 1998
Ferguson B M, Thomas N S, Munoz F, Morgan D, Clarke A, Zonana J
Abstract excerpt
Indirect molecular diagnosis of X linked hypohidrotic ectodermal dysplasia (XLHED), a congenital disorder of hair, teeth, and eccrine sweat glands, has been possible by linkage analysis. Direct mutation detection would enable carrier detection in female relatives of sporadic cases, as well as hel...
Topics
- Cohort Studies
- DNA Mutational Analysis
- Ectodermal Dysplasia
- Exons
- Family
- Female
- Genes, Recessive
- Genetic Carrier Screening
- Genetic Linkage
- Hair Diseases
- Humans
- Hypohidrosis
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational