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

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 storage diso...

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Detalles Bibliográficos
Autores principales: De Geer, Karl, Mascianica, Katarzyna, Naess, Karin, Sardh, Eliane, Lindstrand, Anna, Björck, Erik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523780/
https://www.ncbi.nlm.nih.gov/pubmed/37752499
http://dx.doi.org/10.1186/s12886-023-03136-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523780/
https://www.ncbi.nlm.nih.gov/pubmed/37752499
http://dx.doi.org/10.1186/s12886-023-03136-4

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