Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
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DOI: 10.1007/s00439-021-02284-1
Abstract: Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten… read more here.
Keywords: retinal dystrophy; stx3 variants; disease; microvillus inclusion ... See more keywords