2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies
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    ncbi.nlm.nih.gov/pmc/articles/PMC8819279/
  3. Sep 2026
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families
    1
    1. Vibhor 13 Sep 2026
      MD-0324ABCA423c.3386G>Tp.Arg1129Leu1c.3G>Ap.Met1Ile ^15YesABCR400 + NGSThis study

      Case#: MD-0324 Proband,

      DiseaseAssertion: STGD

      FamilyInfo: Family MD-0324

      CasePresentingHPOs:

      CaseHPOFreeText: STGD diagnosed based on "bilateral central vision loss; fundus presenting with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinogram (ERGs)."

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: Haplotype analysis, ABCR400, NGS

      PreviouslyPublished: n/a

      Variant:c.3386G>T p.Arg1129Leu; c.3G>A p.Met1Ile

      ClinVar: n/a

      CAID: CA341289040

      SupplementalData: n/a

      CaseInfo Individual CA341289040 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC3808491/