Version 1
: Received: 4 February 2024 / Approved: 5 February 2024 / Online: 5 February 2024 (06:27:43 CET)
Version 2
: Received: 5 February 2024 / Approved: 6 February 2024 / Online: 6 February 2024 (03:51:30 CET)
How to cite:
Javed, M.; Mohsin, F.; Javed, A. ‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’. Preprints2024, 2024020226. https://doi.org/10.20944/preprints202402.0226.v2
Javed, M.; Mohsin, F.; Javed, A. ‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’. Preprints 2024, 2024020226. https://doi.org/10.20944/preprints202402.0226.v2
Javed, M.; Mohsin, F.; Javed, A. ‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’. Preprints2024, 2024020226. https://doi.org/10.20944/preprints202402.0226.v2
APA Style
Javed, M., Mohsin, F., & Javed, A. (2024). ‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’. Preprints. https://doi.org/10.20944/preprints202402.0226.v2
Chicago/Turabian Style
Javed, M., Fatima Mohsin and Ayesha Javed. 2024 "‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’" Preprints. https://doi.org/10.20944/preprints202402.0226.v2
Abstract
A rare genetic disorder caused by col18.a1 mutations, inherited mostly in autosomal recessive and rarely in autosomal dominant pattern, giving rise to ocular abnormalities and other associated disorders, the condition is referred to as Knobloch syndrome. This paper overviews the anterior and posterior ocular symptoms in Knobloch patients, thus demonstrating the major findings in Knobloch cases including the mutational analysis which discusses the proteins involved and exon number on which mutations are detected. Animal modeling done by knocking out col18.a1 has also been discussed to determine the functions of this gene which have been identified based on anomalies found in knock-out mice.
Biology and Life Sciences, Biology and Biotechnology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.