Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes
PMID: 33633436 Gene:ABCA4 HGNC:34
2 Matching Annotations
- Sep 2026
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease
PMID: 19352439
Gene: ABCA4
HGNC ID: 34
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