Article

Investigating a possible role of <i>R3HCC1L</i> in embryonic development and ocular disease

2024-11-03

Abstract excerpt

Peters anomaly (PA) is an anterior segment ocular disorder with wide phenotypic variability and genetic heterogeneity. Here we report a family consisting of a male with a diagnosis of syndromic PA and his unaffected parents, with no causative variants identified in known developmental ocular genes. Exome sequencing analysis identified compound heterozygous missense variants, c. 1022A>T p.(Asp341Val) and c.1457T>A...

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Literature Corpus work: 5b2e7279-be00-5361-9a76-a533fa057440
DOI: 10.1101/2024.10.29.620958

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