Fol. Biol. 2020, 66, 123-132
https://doi.org/10.14712/fb2020066040123
Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
J. Moravikova
1, Z. Kozmik
2, L. Hlavata
1, M. Putzova
3, P. Skalicka
1,4, M. Michaelides
5,6, F. Malinka
1,7,
Lubica Dudakova1, P. Liskova
1,4
1Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic
2Department of Transcriptional Regulation, Institute of Molecular Genetics, Czech Academy of Sciences, Prague, Czech Republic
3Biopticka laborator s.r.o., Pilsen, Czech Republic
4Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic
5Moorfields Eye Hospital NHS Foundation Trust, London, UK
6UCL Institute of Ophthalmology, University College London, UK
7Department of Computer Science, Czech Technical University in Prague, Czech Republic
Received June 2020
Accepted August 2020
Individual author index pages
Other articles of these authors
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Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case
B. Kousal, T. Honzík, H. Hansíková, N. Ondrušková, A. Čechová, M. Tesařová, V. Stránecký, M. Meliška, M. Michaelides, Petra Lišková
2019, Vol. 65, Issue 3, pp. 134-141
