X-linked juvenile retinoschisis: phenotypic and genetic characterization

Juvenile X-linked retinoschisis (XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian population. The patients demonstrated macular retinoschi...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Ophthalmol
Egile Nagusiak: Strupaitė, Rasa, Ambrozaitytė, Laima, Cimbalistienė, Loreta, Ašoklis, Rimvydas, Utkus, Algirdas
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: International Journal of Ophthalmology Press 2018
Gaiak:
Brief Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6232335/
https://ncbi.nlm.nih.gov/pubmed/30450322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2018.11.22
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