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Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report

Crossref DOI link: https://doi.org/10.1186/s12881-018-0596-7

Published Online: 2018-05-03

Published Print: 2018-12

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

Authors

Zhou, Taifeng

Wang, Yongqian

Zhou, Hang

Liao, Zhiheng

Gao, Bo

Su, Deying

Zheng, Shuhui

Xu, Caixia

Su, Peiqiang http://orcid.org/0000-0001-5391-7558
Funding

Funding for this research was provided by:

National Natural Science Foundation of China (81572091, 81772293, 81772302)

Guangzhou Science and Technology Program key projects (201704020120)
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Article History

Received: 9 November 2017

Accepted: 26 April 2018

First Online: 3 May 2018

Ethics approval and consent to participate

: This study was approved by the Ethical Committees of the First Affiliated Hospital of Sun Yat-sen University. Written informed consent was obtained from the parents of patient 1 and patient 2.

: The parent of the patients consented to the publication of the case and any accompanying images with written consent.

: The authors declare that they have no competing interests.

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