Novel pathogenic variants in the RECQL4 gene causing Rothmund‐Thomson syndrome in three Chinese patients-Reference-Cited by-同舟云学术

Novel pathogenic variants in the RECQL4 gene causing Rothmund‐Thomson syndrome in three Chinese patients

Published:2021-06-22 Issue:10 Volume:48 Page:1511-1517
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Zhang Yingzi¹^ORCID,Qin Wen²,Wang Huijun²,Lin Zhimiao²,Tang Zhanli³,Xu Zhe¹⁴

Affiliation:

1. Department of Dermatology Shunyi Maternal and Children’s Hospital of Beijing Children’s Hospital Beijing China

2. Department of Dermatology Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases Beijing China

3. Department of Dermatology Qilu Hospital of Shandong University Jinan China

4. Department of Dermatology Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health Beijing China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16015

Reference22 articles.

1. Rothmund-Thomson syndrome

2. Clinical utility gene card for: Rothmund–Thomson syndrome

3. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

4. Functional Relation among RecQ Family Helicases RecQL1, RecQL5, and BLM in Cell Growth and Sister Chromatid Exchange Formation

5. Human RecQ Helicases in DNA Repair, Recombination, and Replication

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