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APC c.4621C>T variant causing Gardner's syndrome in a Han Chinese family may be inherited through maternal mosaicism

Gardner's syndrome is a rare autosomal dominant hereditary disease that is characterized by multiple colorectal polyps combined with extra-colonic presentation (such as osteoma or desmoid tumors) of familial adenomatous polyposis syndrome. Gardner's syndrome is caused by the mutation of th...

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Detalles Bibliográficos
Autores principales: Cai, Decheng, He, Fei, Xu, Xiangmin, Xiong, Fu, Zhang, Leitao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005673/
https://www.ncbi.nlm.nih.gov/pubmed/33790997
http://dx.doi.org/10.3892/etm.2021.9919