A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

BACKGROUND: Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with differing repertoires of FGF-binding specificity. He...

Descripción completa

Detalles Bibliográficos
Autores principales: Fenwick, Aimee L, Bowdin, Sarah C, Klatt, Regan EM, Wilkie, Andrew OM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192734/
https://www.ncbi.nlm.nih.gov/pubmed/21943124
http://dx.doi.org/10.1186/1471-2350-12-122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192734/
https://www.ncbi.nlm.nih.gov/pubmed/21943124
http://dx.doi.org/10.1186/1471-2350-12-122

Ejemplares similares