Frykholm, Carina

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