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Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia

Published Online: 2021-04-07

Published Print: 2021-12

Authors

Masunaga, Yohei

Kagami, Masayo

Kato, Fumiko

Usui, Takeshi

Yonemoto, Takako

Mishima, Kazuo

Fukami, Maki

Aoto, Kazushi

Saitsu, Hirotomo

Ogata, Tsutomu http://orcid.org/0000-0001-7178-9991
Funding

Funding for this research was provided by:

Japan Agency for Medical Research and Development (JP20ek0109301, JP20ek0109373, JP20ek0109464)

Japan Society for the Promotion of Science (17H06428)

Takeda Science Foundation
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Text and Data Mining valid from 2021-04-07

Version of Record valid from 2021-04-07
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Article History

Received: 1 February 2021

Accepted: 24 March 2021

First Online: 7 April 2021

Declarations

:

: This study was approved by the Institutional Review Board Committee at Hamamatsu University School of Medicine, and was performed after obtaining written informed consent from the patient.

: We obtained written permission to publish photographs and clinical and molecular data of the patient.

: The authors declare no competing of interests.

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