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Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1-associated epithelial recurrent erosion dystrophy

delete2026-06-10
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K
Karl De Geer *
K
Kristina Lagerstedt-Robinson
D
Daniel Nilsson
C
Cilla Söderhäll
B
Björn Hammar
E
Erik Björck
DOI:10.1111/aos.70171delete
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Abstract

Abstract

En 中文
To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions.
Keywords:
COL17A1
corneal dystrophy
corneal erosion
ERED
keloid
NQO1
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Journal

Acta Ophthalmologica cover
Acta Ophthalmologica
IF:
2.8
Papers:
1.1W
Citations:
1.1W

Organization

L
Lund University and Skåne University Hospital
Scholars:
55
Papers: 23
Citations: 0
K
karolinska institutet
Scholars:
6.1K
Papers: 2.3K
Citations: 0
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