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Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature

Crossref DOI link: https://doi.org/10.1186/s12920-018-0421-3

Published Online: 2018-10-23

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Xu, Qiong

Li, Chun-yang

Wang, Yi

Li, Hui-ping

Wu, Bing-bing

Jiang, Yong-hui

Xu, Xiu
Funding

Funding for this research was provided by:

Shanghai Municipal Science and Technology Commission (15411967900)

National Natural Science Foundation of China (81701496)
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Article History

Received: 27 July 2018

Accepted: 12 October 2018

First Online: 23 October 2018

Ethics approval and consent to participate

: This study was approved by the Ethics Committee of the Children’s Hospital of Fudan University. Protocol Written informed consent was obtained from the patient’s parents for the use of the patient’s photograph and for WES.

: Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

: The authors declare that they have no competing interest.

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