Compound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund–Thomson Syndrome in Two Chinese Families-Reference-Cited by-同舟云学术

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Compound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund–Thomson Syndrome in Two Chinese Families

Published:2021-05-18 Issue:2 Volume:4 Page:76-81
ISSN:2096-5540
Container-title:International Journal of Dermatology and Venereology
language:en
Short-container-title:Int J Dermatol Venereol

Author:

Pan Chao-Lan,Cao Qiao-Yu,Li Yue,Zhang Jia,Zhang Zhen,Wang Yu-Meng,Chen Fu-Ying,Cheng Ru-Hong,Wang Xiao-Xiao,Yao Zhi-Rong,Lu Zhi-Yong,Li Ming

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference21 articles.

1. Ueber cataracten in verbindung mit einer eigenthümlichen Hautdegeneration;Rothmund;Archiv für Ophthalmologie,1868

2. Poikiloderma congexitale;Thomson;Br J Dermatol,1936

3. Rothmund's syndrome; Thomson's syndrome; congenital poikiloderma with or without juvenile cataracts;Taylor;AMA Arch Derm,1957

4. Mutations in ANAPC1, encoding a scaffold subunit of the anaphase-promoting complex, cause Rothmund-Thomson Syndrome Type 1;Ajeawung;Am J Hum Genet,2019

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

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Power of Molecular Genetics in Understanding Heritable Skin Disorders: Introduction to the Special Theme on Genodermatosis;International Journal of Dermatology and Venereology;2021-05-28

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