Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report
BMC Pediatr. 2024 Aug 16;24(1):528. doi: 10.1186/s12887-024-04628-y. ABSTRACT BACKGROUND: The MACF1 gene, found on chromosome 1p34.3, is vital for controlling cytoskeleton dynamics, cell movement, growth, …