title: A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: M
authors.initials: M
authors.lastname: Yan
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: R
authors.initials: R
authors.lastname: Cheng
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: C
authors.initials: C
authors.lastname: Ni
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: J
authors.initials: J
authors.lastname: Liang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. aypyslm@163.com.
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. dermatology.yao@sohu.com.
authors.forename: Z
authors.initials: Z
authors.lastname: Yao
mesh_terms: D002675:Child, Preschool; D002681:China; D005260:Female; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D053484:RecQ Helicases / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*
chemical_list: C506731:RECQL4 protein, human; D053484:RecQ Helicases