Schrauwen, Isabelle

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. [electronic resource] - European journal of human genetics : EJHG 06 2019 - 869-878 p. digital

Publication Type: Clinical Trial; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1476-5438

10.1038/s41431-019-0372-y doi


Amino Acid Substitution
Child
Child, Preschool
Chromosome Disorders--genetics
Female
Genes, Dominant
Genetic Loci
Hearing Loss--genetics
Humans
Hungary
Male
Membrane Glycoproteins--genetics
Microfilament Proteins--genetics
Mutation, Missense
Roma--genetics