Biblio
A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus. Mol Genet Genomic Med. 2024;12(1):e2358.
A nonsense variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities. Heliyon. 2024;10(6):e27946.