First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia-Reference-Cited by-同舟云学术

First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia

Published:2021-03-10 Issue:4 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Sheyanth Inger Norlyk¹²³^ORCID,Lolas Ihab Bishara¹⁴,Okkels Henrik¹⁴,Kiruparajan Ligor Pradeep¹⁵,Abildgaard Søren Kromann¹⁵,Petersen Michael Bjørn¹²³^ORCID

Affiliation:

1. Research and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg Denmark

2. Department of Clinical Genetics Aalborg University Hospital Aalborg Denmark

3. Department of Clinical Medicine Aalborg University Aalborg Denmark

4. Department of Molecular Diagnostics Department of Clinical Biochemistry Aalborg University Hospital Aalborg Denmark

5. Department of Ophthalmology Aalborg University Hospital Aalborg Denmark

Funder

Det Obelske Familiefond

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1652

Reference32 articles.

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2. Doyne honeycomb retinal dystrophy – functional improvement following subthreshold nanopulse laser treatment: a case report

3. Peculiar condition of choroiditis occuring in several members of the same family;Doyne R.;Transactions of the Ophthalmological Societies of the United Kingdom,1899

4. Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

5. Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen

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