muscle-eye-brain diseaseResearch
A recent case report expands the genotypic spectrum of POMGNT1-related muscle-eye-brain disease, providing new insights into the genetic variations associated with this condition. This research contributes to the understanding of the disease's genetic underpinnings.
expanding the genotypic spectrum of pomgnt1 related muscle eye brain disease a case report
Original title: “Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.”