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Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities

Crossref DOI link: https://doi.org/10.1038/s10038-017-0399-2

Published Online: 2018-01-23

Published Print: 2018-04

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

Authors

Nakajima, Junya

Oana, Shingo

Sakaguchi, Tomohiro

Nakashima, Mitsuko

Numabe, Hironao

Kawashima, Hisashi

Matsumoto, Naomichi

Miyake, Noriko
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Article History

Received: 16 October 2017

Revised: 7 November 2017

Accepted: 19 November 2017

First Online: 23 January 2018

Compliance with ethical standards

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: The authors declare that they have no conflict of interest.