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Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

BACKGROUND: Androgen insensitivity syndrome (AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor (AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer (CRC) have been d...

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Detalles Bibliográficos
Autores principales: Disciglio, Vittoria, Devecchi, Andrea, Palumbo, Orazio, Carella, Massimo, Penso, Donata, Milione, Massimo, Valle, Giorgio, Pierotti, Marco Alessandro, Vitellaro, Marco, Bertario, Lucio, Canevari, Silvana, Signoroni, Stefano, De Cecco, Loris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897824/
https://www.ncbi.nlm.nih.gov/pubmed/27267075
http://dx.doi.org/10.1186/s40880-016-0115-1