Article
Ectodermal dysplasias.
American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2004
Itin Peter H, Fistarol Susanna K
Abstract excerpt
Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic). The ectodermal dysplasias, as a rule, are not pure "one-layer diseases."...
Topics
- Cell Adhesion
- Ectodermal Dysplasia
- Gene Expression Regulation
- Genotype
- Humans
- Mutation
- Phenotype