Article
Late-onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome.
American journal of medical genetics - 15 Jul 1992
Nakar S, Ingber A, Kremer I, Hodak E, Garty B Z, Ben-David E, David M, Shohat M
Abstract excerpt
We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a disti...
Topics
- Adolescent
- Adult
- Epidermolysis Bullosa Dystrophica
- Epidermolysis Bullosa, Junctional
- Female
- Genes, Recessive
- Humans
- Intellectual Disability
- Lens Subluxation
- Male
- Phenotype
- Syndrome
- Tooth Abnormalities