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2020 | 1 |
2021 | 2 |
2024 | 0 |
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ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmol. 2021 Jun 5;21(1):249. doi: 10.1186/s12886-021-02013-2.
BMC Ophthalmol. 2021.
PMID: 34090370
Free PMC article.
Review.
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P.
Kousal B, et al.
Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13.
Acta Ophthalmol. 2021.
PMID: 32533651
Free article.
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