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A complex rearrangement between APC and TP63 associated with familial adenomatous polyposis identified by multimodal genomic analysis: a case report

Genetic testing of the APC gene by sequencing analysis and MLPA is available across commercial laboratories for the definitive genetic diagnosis of familial adenomatous polyposis (FAP). However, some genetic alterations are difficult to detect using conventional analyses. Here, we report a case of a...

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Detalles Bibliográficos
Autores principales: Oda, Satoyo, Ushiama, Mineko, Nakamura, Wataru, Gotoh, Masahiro, Tanabe, Noriko, Watanabe, Tomoko, Odaka, Yoko, Aoyagi, Kazuhiko, Sakamoto, Hiromi, Nakajima, Takeshi, Sugano, Kokichi, Yoshida, Teruhiko, Shiraishi, Yuichi, Hirata, Makoto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10434623/
https://www.ncbi.nlm.nih.gov/pubmed/37601671
http://dx.doi.org/10.3389/fonc.2023.1205847