Biblio
Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation. Clin Chim Acta. 2022.
. Novel SLC12A1 Mutations cause Bartter Syndrome in Two Patients with Different Prognoses. Clin Chim Acta. 2022.
Case report: A NSD2 truncating variant in a child with Rauch-Steindl syndrome. Front Pediatr. 2023;11:1064783.
. . 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.