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A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

Crossref DOI link: https://doi.org/10.1186/s12881-018-0606-9

Published Online: 2018-06-18

Published Print: 2018-12

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

Authors

Moon, Jung-Eun

Lee, Su-Jeong

Ko, Cheol Woo http://orcid.org/0000-0002-0643-7233
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Article History

Received: 16 December 2017

Accepted: 15 May 2018

First Online: 18 June 2018

Ethics approval and consent to participate

: This study was approved by the Institutional Review Board of the Kyungpook National University Chilgok Hospital. Written informed consent for the molecular studies was obtained from the patient’s parents. A copy of the consent is available for review by the editor of this journal.

: The patient’s parents consented to the publication of the case and any accompanying images in writing.

: The authors declare that they have no competing interests.

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