Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene

Zhang, Xinyue; Geng, Songmei; Zheng, Yi

Zhang, Xinyue; Geng, Songmei; Zheng, Yi.

Zhang, Xinyue; XiAn Jiaotong University. Second Affiliated Hospital. Department of Dermatology. Shaanxi. CN
Geng, Songmei; XiAn Jiaotong University. Second Affiliated Hospital. Department of Dermatology. Shaanxi. CN
Zheng, Yi; XiAn Jiaotong University. Second Affiliated Hospital. Department of Dermatology. Shaanxi. CN

An. bras. dermatol ; 95(4): 538-540, July-Aug. 2020. graf

Article in English | LILACS, ColecionaSUS | ID: biblio-1130902

Subject(s)

Humans; Rothmund-Thomson Syndrome; RecQ Helicases/genetics; Mutation

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Full text: Available Index: LILACS (Americas) Main subject: Rothmund-Thomson Syndrome / RecQ Helicases Limits: Humans Language: English Journal: An. bras. dermatol Year: 2020 Type: Article Institution/Affiliation country: XiAn Jiaotong University/CN

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