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The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up

Crossref DOI link: https://doi.org/10.1186/s12890-024-03290-5

Published Online: 2024-10-01

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

Authors

Kaji, Masanori

Namkoong, Ho

Chubachi, Shotaro

Tanaka, Hiromu

Asakura, Takanori

Haraguchi Hashiguchi, Mizuha

Yamada, Mamiko

Uehara, Tomoko

Suzuki, Hisato

Tanabe, Naoya

Yamada, Yoshitake

Nozaki, Taiki

Ouchi, Takeshi

Tsuji, Atsutoshi

Kosaki, Kenjiro

Hasegawa, Naoki

Fukunaga, Koichi
Funding

Funding for this research was provided by:

Japan Agency for Medical Research and Development (JP23ak0101206)

Japan Agency for Medical Research and Development (JP23ek0109549)

Japan Science and Technology Agency (JPMJPR21R7)

Japan Society for the Promotion of Science (23H02952)
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Text and Data Mining valid from 2024-10-01

Version of Record valid from 2024-10-01
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Article History

Received: 15 February 2024

Accepted: 18 September 2024

First Online: 1 October 2024

Declarations

:

: The ethics review boards of Keio University Hospital approved the study protocol.

: Written informed consent was obtained from the patient for publication of this study.

: The authors declare no competing interests.

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