First reported case in Ireland of MEN2A due to a rare mutation in exon 8 of the RET oncogene

We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of...

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Detalles Bibliográficos
Autores principales: Casey, R, Prendeville, S, Joyce, C, O'Halloran, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2013
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922143/
https://www.ncbi.nlm.nih.gov/pubmed/24616773
http://dx.doi.org/10.1530/EDM-13-0044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922143/
https://www.ncbi.nlm.nih.gov/pubmed/24616773
http://dx.doi.org/10.1530/EDM-13-0044

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