Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.

Publication

Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.

Journal Paper/Review - Apr 25, 2023

Sanlialp Ayse, Escher Pascal, Schaller André, Todorova Margarita

Citation

Sanlialp A, Escher P, Schaller A, Todorova M. Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant. Klin Monbl Augenheilkd 2023; 240:536-543.

Type

Journal Paper/Review (English)

Journal

Klin Monbl Augenheilkd 2023; 240

Publication Date

Apr 25, 2023

Issn Electronic

1439-3999

Pages

536-543

Brief description/objective

The aim of the study was to describe the clinical and genetic correlation of a c.469 G>A p.(Asp157Asn) heterozygous pathogenic variant in PRPH2 in two siblings of Italian origin.