Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.
Nobutaka TachibanaKatsuhiro HosonoShuhei NomuraShinji AraiKaoruko ToriiKentaro KurataMiho SatoShuichi ShimakawaNoriyuki AzumaTsutomu OgataYoshinao WadaNobuhiko OkamotoHirotomo SaitsuSachiko NishinaYoshihiro HottaPublished in: Genes (2022)
There have been limited reports of retinal dystrophy caused by UPD, suggesting that it is rare. Genetic counseling may be encouraged in pediatric cases of retinal dystrophy.
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