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Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2

Crossref DOI link: https://doi.org/10.1038/s10038-025-01393-3

Published Online: 2025-08-27

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

Authors

Hayashi, Yukina

Hamada, Keisuke

Rethanavelu, Kavitha

Tsuchida, Naomi https://orcid.org/0000-0001-7203-884X
Uchiyama, Yuri https://orcid.org/0000-0002-4540-5277
Koshimizu, Eriko https://orcid.org/0000-0001-9947-3315
Miyatake, Satoko https://orcid.org/0000-0001-7587-5168
Mizuguchi, Takeshi https://orcid.org/0000-0003-4998-1244
Ogata, Kazuhiro https://orcid.org/0000-0003-2952-3027
Fujita, Atsushi https://orcid.org/0000-0003-1572-1014
Matsumoto, Naomichi https://orcid.org/0000-0001-9846-6500
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Text and Data Mining valid from 2025-08-27

Version of Record valid from 2025-08-27
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Article History

Received: 1 August 2025

Revised: 13 August 2025

Accepted: 15 August 2025

First Online: 27 August 2025

Competing interests

: The authors declare no competing interests.