Article
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Molecular genetics & genomic medicine - 1 Aug 2020
Ibarra-Arce Aurora, Almaraz-Salinas Manuel, Martínez-Rosas Víctor, Ortiz de Zárate-Alarcón Gabriela, Flores-Peña Laura, Romero-Valdovinos Mirza, Olivo-Díaz Angélica
Abstract excerpt
BACKGROUND: Craniosynostosis is one of the major genetic disorders affecting 1 in 2,100-2,500 live newborn children. Environmental and genetic factors are involved in the manifestation of this disease. The suggested genetic causes of craniosynostosis are pathogenic variants in FGFR1, FGFR2, FGFR3, and TWIST1 genes. METHODS: In order to describe their major clinical characteristics and the presence of pathogenic...
Topics
- Adult
- Child
- Child, Preschool
- Craniosynostoses
- Female
- Gene Frequency
- Humans
- Infant
- Male
- Mexico
- Mutation, Missense
- Nuclear Proteins
- Phenotype
- Receptors, Fibroblast Growth Factor