Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified.
A 40-year-old female patient was referred to our department after undergoing aneurysm tr...
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Full title
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
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TN_cdi_doaj_primary_oai_doaj_org_article_b54e2527394f4f66959c6e7cd58b701a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b54e2527394f4f66959c6e7cd58b701a
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-024-01850-6
