Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axisColoboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis
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We report a male grownup with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that’s, c.625G > A p.(Glu209Lys).