Genotype-phenotype correlations in GJB2 disease

Promotor: Professor Peter M. Steijlen
Co-promotors: Maurice A.M. van Steensel, Michel van Geel

Aims of this thesis:

To identify a genotype-phenotype relationship for connexin 26 diseases.
To proof that there are biological correlations for morphology and function of connexin 26 mutants versus the disease the mutations cause.
To understand how mutations in connexin 26 lead to the development of skin disease.
To provide a mouse model for the pathogenesis of KID syndrome.

My research is supported by Grants from: