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Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis

Crossref DOI link: https://doi.org/10.1186/s12887-019-1733-y

Published Online: 2019-10-21

Published Print: 2019-12

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

Authors

Zhang, Yan

Zhang, Yi

Zhang, Victor Wei

Zhang, Chunyi

Ding, Hongke

Yin, Aihua http://orcid.org/0000-0002-0324-5260
Funding

Funding for this research was provided by:

Major Medical Collaboration and Innovation Program of Guangzhou Science Technology and Innovation Commission (201604020020)

National Key Research and Development Project (2018YFC1002600)
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Text and Data Mining valid from 2019-10-21

Version of Record valid from 2019-10-21
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Article History

Received: 11 December 2018

Accepted: 20 September 2019

First Online: 21 October 2019

Ethics approval and consent to participate

: Written informed consent was signed by the patient’s parents for the genetic testing.

: Written informed consent was obtained from the patient’s parents for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.

: The authors declare that they have no competing interests.

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