novel variant
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Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
J. Moravikova, Z. Kozmik, L. Hlavata, M. Putzova, P. Skalicka, M. Michaelides, F. Malinka, Lubica Dudakova, P. Liskova
2020, Vol. 66, Issue 4, pp. 123-132 -
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
