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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
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    1. Vibhor 26 Jul 2026
      The proband

      Case#: two affected sisters

      DiseaseAssertion: Stargardt Disease

      FamilyInfo: compound heterozygotes for the mutations. Unaffected family members did not carry either or had one of the two mutations.

      CasePresentingHPOs: NR

      CaseHPOFreeText: NR

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      Genotyping Method: ABCA4 408 microsatellite

      PreviouslyPublished: NR

      Variant: NM_000350.3(ABCA4):c.5018+2T>C , NM_000350.3(ABCA4):c.655A>T

      ClinVar: 265008, 632118

      CAID: CA10588304, CA645372240

      SupplementalData: NR

      ClinVar: 265008 Variant: c.655A>T, c.5312+3A>T automated_hgnc:34 automated_hgnc_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC2665199/