Doğan Doğan YB YB Günay Günay N N Ada Ada Y Y A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome Am J Med Genet Part A Am J Med Genet Part A 2023 2023 191 191 173 173 182 182 supplied-pmid 36269149? Here, MTX2 is linked to mandibuloacral dysplasia progeroid syndrome.