Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome-Reference-Cited by-同舟云学术

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome

Published:2018-05 Issue: Volume:654 Page:110-115
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Gui Baoheng,Song Yanning,Hu Xuyun^ORCID,Li Hongdou,Qin Zailong,Su Jiasun,Li Chuan,Fan Xin,Li Mengting,Luo Jingsi,Feng Ying,Song Liping,Chen Shaoke,Gong Chunxiu,Shen Yiping

Funder

Major Research Plan of the Provincial Science and Technology Foundation of Guangxi

“Eastern Scholars” Fund

“Bagui scholars” Fund

Natural Science Foundation of China

GeneScience Pharmaceuticals Co., Ltd.

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference33 articles.

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2. Malignant disease in Bloom's syndrome children treated with growth hormone;Brock;Lancet,1991

3. Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents;Cabral;Mutat. Res.,2008

4. Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome;Carlson;Eur. J. Haematol.,2011

5. Chronic tibial nonunion in a Rothmund-Thomson syndrome patient;Carlson;Am. J. Med. Genet. A,2012

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