Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
Abstract Background 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 stor...
Main Authors: | Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-09-01
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Series: | BMC Ophthalmology |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12886-023-03136-4 |
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