A recent study highlights the use of genotype-driven MRI re-evaluation to identify subtle features of PAFAH1B1-related lissencephaly. This research could enhance diagnostic accuracy for patients with this rare brain malformation.
genotype driven mri re evaluation reveals subtle pafah1b1 related lissencephaly
Original title: “Genotype-Driven MRI Re-evaluation Reveals Subtle PAFAH1B1-Related Lissencephaly.”