A study identifies biallelic PAX6 variants in an adult with severe microphthalmia while preserving intellectual function. This research contributes to understanding the genetic basis of microphthalmia and its phenotypic variability.
biallelic pax6 variants in an adult with severe microphthalmia and preserved intellectual function
Original title: “Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function.”