Article
[Clinical and genetic analysis of the Townes-Brocks syndrome].
TSitologiia i genetika - 1 Jan 2000
Il'ina E G, Laziuk G I
Abstract excerpt
Due to the performed analysis of data from literature and the author's observations of the Taunse-Brock's syndrome a wide variability of phenotypic manifestations is shown, the diagnostic criteria of syndrome are determined, its autosomic-dominant inheritance with complete penetrance is confirmed.
Topics
- Abnormalities, Multiple
- Child, Preschool
- Deafness
- Ear, External
- Female
- Fingers
- Genes, Dominant
- Humans
- Intestine, Large
- Kidney
- Male
- Phenotype
- Syndrome