Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation. [electronic resource]
- Gene May 2015
- 10-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1879-0038
10.1016/j.gene.2015.02.022 doi
Adolescent Adult Cardiomyopathies--genetics Child Child, Preschool Female Frameshift Mutation Genes, Dominant Genetic Linkage Hearing Loss--epidemiology Hearing Loss, Sensorineural--genetics Humans Male Pedigree Phenotype Sweden Trans-Activators--genetics Young Adult