Rothmund-Thomson syndrome (RTS) with osteosarcoma due toRECQL4mutation-Reference-Cited by-同舟云学术

Rothmund-Thomson syndrome (RTS) with osteosarcoma due toRECQL4mutation

Published:2018-01-23 Issue: Volume: Page:bcr-2017-222384
ISSN:1757-790X
Container-title:BMJ Case Reports
language:en
Short-container-title:BMJ Case Reports

Author:

Salih Anas,Inoue Susumu,Onwuzurike Nkechi

Publisher

BMJ

Subject

General Medicine

Reference11 articles.

1. Rothmund-Thomson syndrome;Larizza;Orphanet J Rare Dis,2010

2. The mutation spectrum in RECQL4 diseases;Siitonen;Eur J Hum Genet,2009

3. Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson syndrome sibs with mild phenotype;Colombo;Eur J Hum Genet,2014

4. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome;Wang;J Natl Cancer Inst,2003

5. Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review;Simon;Am J Med Genet A,2010

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