Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis

ConclusionThe 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 theFGFR1,FGFR2,FGFR3, andTWIST1 genes, to determine different pathogenic variants. On the other hand, it would be important to include other genes, such asTCF12 (OMIM 600,480),MSX2 (OMIM 123,101),RAB23 (OMIM 606,144), andEFNB1 (OMIM 300,035), to determine their participation in craniosynostosis in the Mexican population.

Source: Molecular Genetics & Genomic Medicine - June 7, 2020 Category: Genetics & Stem Cells Authors: Aurora Ibarra ‐Arce, Manuel Almaraz‐Salinas, Víctor Martínez‐Rosas, Gabriela Ortiz de Zárate‐Alarcón, Laura Flores‐Peña, Mirza Romero‐Valdovinos, Angélica Olivo‐Díaz Tags: ORIGINAL ARTICLE Source Type: research