Article
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
Gene - 15 May 2018
Gui Baoheng, Song Yanning, Hu Xuyun, Li Hongdou, Qin Zailong, Su Jiasun, Li Chuan, Fan Xin, Li Mengting, Luo Jingsi, Feng Ying, Song Liping, Chen Shaoke, Gong Chunxiu, Shen Yiping
Abstract excerpt
BACKGROUND: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder mainly characterized by cutaneous poikiloderma, sparse hair, short stature and skeletal defects. Deleterious mutations in the RecQ-like DNA helicase type 4 (RECQL4) gene have been detected in approximately two-thirds of RTS cases. METHODS: Three Chinese patients from two unrelated families were enrolled for clinical evaluation....
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