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

• Autori principali: Chao-Lan Pan (Autore), Qiao-Yu Cao (Autore), Yue Li (Autore), Jia Zhang (Autore), Zhen Zhang (Autore), Yu-Meng Wang (Autore), Fu-Ying Chen (Autore), Ru-Hong Cheng (Autore), Xiao-Xiao Wang (Autore), Zhi-Rong Yao (Autore), Zhi-Yong Lu (Autore), Ming Li (Autore)
• Natura: Libro
• Pubblicazione: Wolters Kluwer Health, 2021-06-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...