A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome

J Eur Acad Dermatol Venereol. 2016 Nov;30(11):e159-e161. doi: 10.1111/jdv.13466. Epub 2015 Oct 30.

Authors

J Zhang¹, M Yan¹, R Cheng¹, C Ni¹, J Liang¹, M Li², Z Yao³

Affiliations

¹ Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
² Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. aypyslm@163.com.
³ Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. dermatology.yao@sohu.com.

PMID: 26515231
DOI: 10.1111/jdv.13466

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
China
Female
Humans
INDEL Mutation*
Male
RecQ Helicases / genetics*
Rothmund-Thomson Syndrome / genetics*

Substances

RECQL4 protein, human
RecQ Helicases