Article

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

2024-03-26

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). <h4>Methods</h4> We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo variants to identify rare candidate...

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Literature Corpus work: 7be7d113-e921-5b07-8ca8-eb5b42091a52
DOI: 10.1101/2024.03.22.24304594

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