Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

Inherited retinal dystrophies (IRDs) are a heterogeneous group of degenerative disorders of the retina. Retinitis Pigmentosa (RP) is a common type of IRD that causes night blindness and loss of peripheral vision and may progress to blindness. Mutations in more than 300 genes have been associated wit...

Full description

Bibliographic Details
Main Authors: Raeesa Tehreem, Iris Chen, Mudassar Raza Shah, Yumei Li, Muzammil Ahmad Khan, Kiran Afshan, Rui Chen, Sabika Firasat
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Genes
Subjects:
retinaldystrophies
night blindness
homozygous sequence variants
autosomal recessive
Online Access:https://www.mdpi.com/2073-4425/13/9/1630

Internet

https://www.mdpi.com/2073-4425/13/9/1630

Similar Items