Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

BACKGROUND: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems. Many of these mutations are highly recurrent and their associated f...

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Detalles Bibliográficos
Autores principales: Fenwick, Aimee L, Goos, Jacqueline AC, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans MW, Wall, Steven A, Mathijssen, Irene MJ, Wilkie, Andrew OM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236556/
https://www.ncbi.nlm.nih.gov/pubmed/25174698
http://dx.doi.org/10.1186/s12881-014-0095-4

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