retinal dystrophy
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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