Article
Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.
American journal of human genetics - 1 Feb 1996
Reynolds J E, Marazita M L, Meyer J M, Stevens C A, Eaves L J, Arnos K S, Ploughman L M, MacLean C, Nance W E, Diehl S R
Abstract excerpt
We used segregation analysis to investigate the genetic basis of variation in dystopia canthorum, one of the key diagnostic features of Waardenburg syndrome type 1 (WS1). We sought to determine whether the W-index, a quantitative measure of this craniofacial feature, is influenced primarily eithe...
Topics
- Alleles
- Deafness
- Eyelids
- Facies
- Humans
- Phenotype
- Waardenburg Syndrome
