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

• Main Authors: Chao-Lan Pan (Author), Qiao-Yu Cao (Author), Yue Li (Author), Jia Zhang (Author), Zhen Zhang (Author), Yu-Meng Wang (Author), Fu-Ying Chen (Author), Ru-Hong Cheng (Author), Xiao-Xiao Wang (Author), Zhi-Rong Yao (Author), Zhi-Yong Lu (Author), Ming Li (Author)
• Format: Book
• Published: Wolters Kluwer Health, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...