Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5′ Splice Site Mutation (1084++1G>A): Case Report.
Craniosynostosis is characterized by premature fusion of one or more cranial sutures and is associated with mutations in fibroblast growth factor receptor (FGFR) genes. Here we describe a novel mutation (1084++1G>A) in the FGFR2 gene of a patient with isolated bicoronal synostosis. We detected two i...
| Publicado en: | Cleft Palate Craniofacial Journal Vol. 49; no. 1; pp. 104 - 109 |
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| Autores principales: | , , , |
| Formato: | case study diagnostic images tables/charts Journal Article |
| Publicado: |
Sage Publications Inc.
Jan2012
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| Acceso en línea: | Ver este registro en EBSCOhost |