Article

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’

2024-02-06

Abstract excerpt

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 mutati...

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Literature Corpus work: a5bbc7a5-66f7-53b7-ab19-a8a2d5645463
DOI: 10.20944/preprints202402.0226.v2

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