A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer

PURPOSE: Corneal dystrophy of Bowman’s layer (CDB) belongs to a group of dystrophies associated with mutations in the transforming growth factor-beta-induced (TGFBI) gene. CDB is further divided into a geographic variant (CDB1/Reis Bücklers, RBCD), and a honeycomb variant (CDB2/Thiel Behnke, TBCD)....

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Detalles Bibliográficos
Autores principales: Wheeldon, Catherine E., de Karolyi, Betina H., Patel, Dipika V., Sherwin, Trevor, McGhee, Charles N.J., Vincent, Andrea L.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518171/
https://www.ncbi.nlm.nih.gov/pubmed/18728790

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518171/
https://www.ncbi.nlm.nih.gov/pubmed/18728790

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