Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Aurora Ibarra-ArceManuel Almaraz-SalinasVíctor Martínez-RosasGabriela Ortiz de Zárate-AlarcónLaura Flores-PeñaMirza Romero-ValdovinosAngelica Olivo-DiazPublished in: Molecular genetics & genomic medicine (2020)
The contribution of this work is discreet, since only 4 genes were analyzed and sample size is small. However, this strategy could be improved by sequencing the FGFR1, FGFR2, FGFR3, and TWIST1 genes, to determine different pathogenic variants. On the other hand, it would be important to include other genes, such as TCF12 (OMIM 600,480), MSX2 (OMIM 123,101), RAB23 (OMIM 606,144), and EFNB1 (OMIM 300,035), to determine their participation in craniosynostosis in the Mexican population.