Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for geneti...
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the SSBP1 gene, associated with variable mitochondrial dysfuncti...
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Full title
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
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TN_cdi_doaj_primary_oai_doaj_org_article_84de29a74b634bb7b9603c4138e3f28b
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_84de29a74b634bb7b9603c4138e3f28b
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02748-9
