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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability

Crossref DOI link: https://doi.org/10.1038/s10038-024-01219-8

Published Online: 2024-01-17

Published Print: 2024-04

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

Authors

Inoue, Yuta https://orcid.org/0000-0002-7073-2843
Tsuchida, Naomi https://orcid.org/0000-0001-7203-884X
Kim, Chong Ae https://orcid.org/0000-0002-1754-1300
de Oliveira Stephan, Bruno

Castro, Matheus Augusto Araujo https://orcid.org/0000-0003-0335-8799
Honjo, Rachel Sayuri

Bertola, Debora Romeo

Uchiyama, Yuri https://orcid.org/0000-0002-4540-5277
Hamanaka, Kohei

Fujita, Atsushi

Koshimizu, Eriko https://orcid.org/0000-0001-9947-3315
Misawa, Kazuharu https://orcid.org/0000-0002-6277-4330
Miyatake, Satoko https://orcid.org/0000-0001-7587-5168
Mizuguchi, Takeshi https://orcid.org/0000-0003-4998-1244
Matsumoto, Naomichi https://orcid.org/0000-0001-9846-6500
Funding

Funding for this research was provided by:

Japan Agency for Medical Research and Development (JP23ek0109674)

Japan Agency for Medical Research and Development (JP23ek0109549)

Japan Agency for Medical Research and Development (JP23ek0109617)

Japan Agency for Medical Research and Development (JP23ek0109648)

Takeda Science Foundation

MEXT | Japan Society for the Promotion of Science (JP23K15353)

MEXT | Japan Society for the Promotion of Science (JP23K07229)

MEXT | Japan Society for the Promotion of Science (JP20K16932)

MEXT | Japan Society for the Promotion of Science (JP20K17936)

MEXT | Japan Society for the Promotion of Science (JP22K15901)

MEXT | Japan Society for the Promotion of Science (JP21K07869)

MEXT | Japan Society for the Promotion of Science (JP20K07907)

MEXT | Japan Society for the Promotion of Science (JP20K08164)

Masato Kawano Memorial Public Interest Foundation for Promotion of Pediatrics
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Text and Data Mining valid from 2024-01-17

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Article History

Received: 25 October 2023

Revised: 7 December 2023

Accepted: 28 December 2023

First Online: 17 January 2024

Change Date: 10 November 2025

Change Type: Correction

Change Details: A Correction to this paper has been published:

Change Details: https://doi.org/10.1038/s10038-025-01422-1

Competing interests

: The authors declare no competing interests.

Updates are available Correction dated 2025-11-10

Click to view Correction: https://doi.org/10.1038/s10038-025-01422-1