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Klin Monbl Augenheilkd 2023; 240(04): 536-543
DOI: 10.1055/a-2034-6250
Klinische Studie

Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant

Klinische Heterogenität bei 2 Geschwistern mit einer heterozygoten pathogenen PRPH2-Variante
Ayse Sanlialp
1   Department of Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland
,
Pascal Escher
2   Department of Ophthalmology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
,
André Schaller
3   Department of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, Bern, Switzerland
,
Margarita Todorova
1   Department of Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland
4   Department of Ophthalmology, University Hospital Basel, Basel, Switzerland
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