About the Authors

Eva Weis

Affiliation Institute of Human Genetics, University Medical Center, Mainz, Germany

Holger Schoen

Affiliation Institute of Human Genetics, University Medical Center, Mainz, Germany

Anja Victor

Affiliation Institute of Medical Biometry, Epidemiology and Informatics, University Medical Center, Mainz, Germany

Claudia Spix

Affiliation Institute of Medical Biometry, Epidemiology and Informatics, University Medical Center, Mainz, Germany

Marco Ludwig

Affiliation Institute of Human Genetics, University Medical Center, Mainz, Germany

Brigitte Schneider-Raetzke

Affiliation Institute of Human Genetics, University Medical Center, Mainz, Germany

Nicolai Kohlschmidt

Affiliation Institute of Human Genetics, University Medical Center, Mainz, Germany

Oliver Bartsch

Affiliation Institute of Human Genetics, University Medical Center, Mainz, Germany

Aslihan Gerhold-Ay

Affiliation Institute of Medical Biometry, Epidemiology and Informatics, University Medical Center, Mainz, Germany

Nils Boehm

Affiliation Experimental Ophthalmology, Ocular Proteomics and Immunology Center, University Medical Center, Mainz, Germany

Franz Grus

Affiliation Experimental Ophthalmology, Ocular Proteomics and Immunology Center, University Medical Center, Mainz, Germany

Thomas Haaf

thomas.haaf@uni-wuerzburg.de

Affiliation Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany

Danuta Galetzka

Affiliation Institute of Human Genetics, University Medical Center, Mainz, Germany

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: EW CS TH DG. Performed the experiments: EW HS ML NB. Analyzed the data: AV AG-A. Contributed reagents/materials/analysis tools: FG. Wrote the paper: EW TH. Genetic counseling of patients: BS-R NK OB. Performed skin biopsies: BS-R NK OB.