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A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

Crossref DOI link: https://doi.org/10.1186/s12881-019-0811-1

Published Online: 2019-05-07

Published Print: 2019-12

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

Authors

Shi, Kaili

Shi, Zhen

Yan, Huifang

Wang, Xiaodong

Yang, Yanling

Xiong, Hui

Gu, Qiang

Wu, Ye

Jiang, Yuwu

Wang, Jingmin http://orcid.org/0000-0001-5157-7262
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Article History

Received: 14 January 2019

Accepted: 23 April 2019

First Online: 7 May 2019

Ethics approval and consent to participate

: This study was approved by the Ethics Committee of Peking University First Hospital. Written informed consent was obtained from the parents of the patient.

: Written informed consent was obtained from the parents for publication of this case report.

: The authors declare that they have no competing interests.

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