Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report

Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report

Abstract Background DKC1 (dyskerin pseudouridine synthase 1) is a causative gene for X-linked dyskeratosis congenita. Approximately 8% of patients with dyskeratosis congenita have malignancy, but information about the development of malignancy in patients with dyskeratosis congenita is limited. Case...

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Bibliographic Details
Main Authors: Motoko Watanabe, Gou Yamamoto, Kenji Fujiyoshi, Yoshito Akagi, Miho Kakuta, Yoji Nishimura, Kiwamu Akagi
Format: Article
Language:English
Published: BMC 2019-04-01
Series:Journal of Medical Case Reports
Subjects:
Dyskeratosis congenita
Rectal cancer
DKC1
Missense variant
X-linked recessive
Online Access:http://link.springer.com/article/10.1186/s13256-019-2044-5

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http://link.springer.com/article/10.1186/s13256-019-2044-5

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