A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome-Reference-Cited by-同舟云学术

A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome

Published:2022-07-04 Issue:1 Volume:22 Page:99-102
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Marmolejo Castañeda David Humberto^ORCID,Cruellas Lapeña Mara,Carrasco López Estela,Aparicio Español Gloria,Valverde Morales Claudia,López-Fernández Adrià,Pérez Ballesteros Eduard,Torres-Esquius Sara,Pardo Muñoz Mónica,Balmaña Gelpi Judith

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics (clinical),Oncology,Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10689-022-00303-2.pdf

Reference5 articles.

1. Wang LL, Plon SE (1999) Rothmund-Thomson syndrome. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews®. Seattle (WA) University of Washington, Seattle, pp 1993–2021

2. Colombo EA, Locatelli A, Cubells Sánchez L, Romeo S, Elcioglu NH, Maystadt I, EsteveMartínez A, Sironi A, Fontana L, Finelli P, Gervasini C, Pecile V, Larizza L (2018) Rothmund-Thomson syndrome: insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome. Int J Mol Sci 19(4):1103

3. Mojumdar A (2020) Mutations in conserved functional domains of human RecQ helicases are associated with diseases and cancer: a review. Biophys Chem 265:106433

4. Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM (2019) Mutations in ANAPC1, encoding a scaffold subunit of the anaphase-promoting complex, cause Rothmund-Thomson syndrome type 1. Am J Hum Genet 105(3):625–630

5. Salih A, Inoue S, Onwuzurike N (2018) Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation. Case Rep. https://doi.org/10.1136/bcr-2017-222384

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