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SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report

Crossref DOI link: https://doi.org/10.1186/s12881-018-0612-y

Published Online: 2018-06-18

Published Print: 2018-12

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

Authors

Horita, Shoko https://orcid.org/0000-0003-2103-3605
Simsek, Enver

Simsek, Tulay

Yildirim, Nilgun

Ishiura, Hiroyuki

Nakamura, Motonobu

Satoh, Nobuhiko

Suzuki, Atsushi

Tsukada, Hiroyuki

Mizuno, Tomohito

Seki, George

Tsuji, Shoji

Nangaku, Masaomi
Funding

Funding for this research was provided by:

Japan Society for the Promotion of Science (16K09640, 17H05085, 17K16071, 16H06750)

Japan Agency for Medical Research and Development (16kk0205001h0001)
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Article History

Received: 29 November 2017

Accepted: 21 May 2018

First Online: 18 June 2018

Ethics approval and consent to participate

: We obtained written informed consent for genetic analysis from the patient and her parents, in compliance with the Declaration of Helsinki. This consent was approved by the ethical committees of the University of Tokyo Faculty of Medicine and Eskisehir Osmangazi University School of Medicine.

: We obtained written informed consent for the publication of medical data of their child from her parents, in compliance with the Declaration of Helsinki.

: The authors declare that they have no competing interests.

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

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