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A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

Crossref DOI link: https://doi.org/10.1038/s10038-024-01279-w

Published Online: 2024-07-31

Published Print: 2024-12

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

Authors

Holling, Tess http://orcid.org/0000-0001-9550-2270
Abdelrazek, Ibrahim M.

Elhady, Ghada M.

Abd Elmaksoud, Marwa

Ryu, Seung Woo

Abdalla, Ebtesam

Kutsche, Kerstin http://orcid.org/0000-0001-8494-8963
Funding

Funding for this research was provided by:

Deutsche Forschungsgemeinschaft (KU 1240/16-1)
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Article History

Received: 22 April 2024

Revised: 17 July 2024

Accepted: 20 July 2024

First Online: 31 July 2024

Competing interests

: Seung Woo Ryu is an employee of 3billion, Inc. All other authors declare no conflicts of interest.

: The parents of the two patients provided written informed consent for participation in the study, clinical data and specimen collection, genetic analysis, and publication of relevant findings.

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