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Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

Crossref DOI link: https://doi.org/10.1038/s41431-025-01809-w

Published Online: 2025-03-19

Published Print: 2025-07

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

Authors

Bruel, Ange-Line https://orcid.org/0000-0002-0526-465X
Vulto-vanSilfhout, Anneke T.

Bilan, Frédéric

Le Guyader, Gwenaël https://orcid.org/0000-0003-2847-8121
Gilbert-Dussardier, Brigitte https://orcid.org/0000-0001-7182-9914
Le Guillou, Xavier https://orcid.org/0000-0001-9350-8177
Rondeau, Sophie

Rio, Marlène https://orcid.org/0000-0003-2049-5058
Lee, Kristen N. https://orcid.org/0000-0001-7326-9973
Beil, Adelyn

Suri, Mohnish

Guerin, François

Ruault, Valentin

Goldenberg, Alice

Lecoquierre, François https://orcid.org/0000-0002-9110-1856
Bertsch, Nicole

Anderson, Rhonda

Yang, Xiao-Ru

Inness, Micheil

Rikeros-Orozco, Emi

Palomares-Bralo, Maria

Hayek, Jennifer Cassady https://orcid.org/0009-0003-5785-9406
Cech, Jennifer

Jhuraney, Ankita

Kumar, Runjun D.

Mercimek-Andrews, Saadet

Ambrose, Anastasia

Wakeling, Erin N.

Wentzensen, Ingrid M.

Torti, Erin

Gooch, Catherine

Faivre, Laurence https://orcid.org/0000-0001-9770-444X
Philippe, Christophe https://orcid.org/0000-0001-7098-6520
Duffourd, Yannis

Vitobello, Antonio https://orcid.org/0000-0003-3717-8374
Thauvin-Robinet, Christel https://orcid.org/0000-0002-4155-139X
Funding

Funding for this research was provided by:

Physicians' Services Incorporated Foundation (Saadet Mercimek-Andrews)

Physicians' Services Incorporated Foundation (Mercimek-Andrews Saadet)

Physicians' Services Incorporated Foundation (Mercimek-Andrews Saadet)

Fonds Européen de développement régional (European Union) Plan d'Actions Régional pour l'Innovation
License Information

Text and Data Mining valid from 2025-03-19

Version of Record valid from 2025-03-19
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Article History

Received: 20 June 2024

Revised: 25 September 2024

Accepted: 30 January 2025

First Online: 19 March 2025

Competing interests

: The authors declare no competing interests. ENW and IMW are employees of GeneDx, LLC.

: Parents signed consent forms for genetic analyses, participation to this study and for images and clinical data publication. Patient 15: this study is approved by the Institutional Research Ethics Boards (REB#100032244) and (ARISE# Pro00106741).

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