Article

Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report

2023-02-21

Abstract excerpt

<h4>Background: </h4> We describe the case of a 47-year-old man referred to a retinal clinic and diagnosed with late-onset retinitis pigmentosa. Surprisingly, genetic testing revealed compound heterozygous pathogenic variants in GNPTG , leading to the diagnosis of the autosomal recessive lysosomal storage disorder mucolipidosis type III gamma. Mucolipidosis type III gamma is typically diagnosed during childhood du...

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Literature Corpus work: e9edc342-b82c-5f9f-a52e-29f6cfa7e341
DOI: 10.21203/rs.3.rs-2511145/v1

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