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Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

Crossref DOI link: https://doi.org/10.1186/s12881-018-0545-5

Published Online: 2018-02-27

Published Print: 2018-12

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

Authors

Xin, Chengqi

Wang, Chun

Wang, Yachen

Zhao, Jingyuan

Wang, Liang

Li, Runjie

Liu, Jing http://orcid.org/0000-0002-0493-296X
Funding

Funding for this research was provided by:

National Nature Science Foundation of China (Grant No. 81471308)

National Health and Family Planning Commission of China and China Food and Drug Administration (Registration No. CMR-20161129-1003)
More Information

Article History

Received: 15 November 2017

Accepted: 20 February 2018

First Online: 27 February 2018

Ethics approval and consent to participate

: This study conformed to the Tenets of the Declaration of Helsinki and was approved by the Ethics Board of the First Affiliated Hospital of Dalian Medical University (FB-KY-2016-47). Informed consent form from the patients and their parents was obtained before collecting blood samples.

: Written informed consent was obtained from all patients and their parents for publication of this case report and any accompanying images.

: The authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.