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Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9322102

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

About this item

Full title

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2022-07, Vol.13 (7), p.1218

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5−56 years, underwent a detailed ophthalmic examination including visual acuity and color vision testing, electroretinography (ERG), visually...

Alternative Titles

Full title

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9322102

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9322102

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes13071218

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