Ocular findings and genomics of X-linked recessive disorders: A review.

ABSTRACT: Advent of new sequencing technologies and modern diagnostic procedures has opened the door for a deeper understanding of disorders about which little was known previously. Discovery of novel genes, new genetic variants in previously known genes and better techniques of functional validation has immensely contributed to unraveling the molecular basis of genetic disorders. Availability of knockout animal models like the zebrafish and gene editing tools like CRISPR-Cas9 has elucidated the function of many new genes and helped us to better understand the functional consequences of various gene defects. This has also led to better diagnosis and therapeutic interventions. In this context, a good body of research work has been done on X-linked recessive disorders with ocular findings. This review

SUBMITTER: Hassan A 

PROVIDER: S-EPMC9426149 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature