Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

Purpose: Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and attempt to clarify the clinical picture of retinal dystrophi...

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Detalles Bibliográficos
Autores principales: Tachibana, Nobutaka, Hosono, Katsuhiro, Nomura, Shuhei, Arai, Shinji, Torii, Kaoruko, Kurata, Kentaro, Sato, Miho, Shimakawa, Shuichi, Azuma, Noriyuki, Ogata, Tsutomu, Wada, Yoshinao, Okamoto, Nobuhiko, Saitsu, Hirotomo, Nishina, Sachiko, Hotta, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872353/
https://www.ncbi.nlm.nih.gov/pubmed/35205402
http://dx.doi.org/10.3390/genes13020359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872353/
https://www.ncbi.nlm.nih.gov/pubmed/35205402
http://dx.doi.org/10.3390/genes13020359

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