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

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

Abstract. Objective:. Biallelic mutations in the RecQ like helicase (RECQL) 4 gene, a guardian of the genome, cause Rothmund–Thomson syndrome type II (RTS-II). Two Chinese girls with mild-phenotype RTS-II mainly restricted to their skin are herein described. Methods:. Blood specimens from two famili...

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Bibliographic Details
Main Authors: Chao-Lan Pan, Qiao-Yu Cao, Yue Li, Jia Zhang, Zhen Zhang, Yu-Meng Wang, Fu-Ying Chen, Ru-Hong Cheng, Xiao-Xiao Wang, Zhi-Rong Yao, Zhi-Yong Lu, Ming Li
Format: Article
Language:English
Published: Wolters Kluwer Health 2021-06-01
Series:International Journal of Dermatology and Venerology
Online Access:http://journals.lww.com/10.1097/JD9.0000000000000160

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http://journals.lww.com/10.1097/JD9.0000000000000160

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