MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes-Reference-Cited by-同舟云学术

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes

Published:2023-07-04 Issue:10 Volume:31 Page:1185-1189
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Terradas Mariona,Gonzalez-Abuin Noemi,García-Mulero Sandra,Viana-Errasti Julen^ORCID,Aiza Gemma,Piulats Josep M.,Brunet Joan^ORCID,Capellá Gabriel^ORCID,Valle Laura^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01418-5.pdf

Reference18 articles.

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2. Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, et al. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. Am J Hum Genet. 2022;109:953–60.

3. Krokan HE, Bjørås M. Base excision repair. Cold Spring Harb Perspect Biol. 2013;5:a012583.

4. Sanders MA, Chew E, Flensburg C, Zeilemaker A, Miller SE, Al Hinai AS, et al. MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML. Blood. 2018;132:1526–34.

5. Griffin BL, Majhail NS, Lesmana H. Germline Biallelic loss in MBD4 leading to early onset AML with hyper-mutator genomic signature. Blood. 2021;138:3385.

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