Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome (2025)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1038/s44321-024-00178-z
- Subjects: TRANSTORNOS MENTAIS DIAGNOSTICADOS NA INFÂNCIA; ANORMALIDADES CONGÊNITAS; FENÓTIPOS
- Agências de fomento:
- INSERM (ATIP-Avenir program)
- Fyssen Foundation (JDG)
- French state funds through the Agence Nationale de la Recherche
- INSERM/CNRS
- University of Strasbourg
- Intramural Research Program of the National Institute of Environmental Health Sciences
- Inserm Cross-Cutting Scientific Program
- INSERM
- Fondation Jerome Lejeune
- ANR
- IGBMC PhD program
- Fondation pour la recherche medicale
- INSERM through a training grant
- Agence Nationale de la Recherche
- Ministere de l'Enseignement Superieur de la Recherche et de l'Innovation - Japan Society for the Promotion of Science
- Japan Agency for Medical Research and Development (AMED)
- Takeda Science Foundation Specific Research Grants
- Ministry of Health, Labor, and Welfare Research Program on Rare and Intractable Diseases
- French National Research Agency
- Burgundy Regional Council
- Language: Inglês
- Imprenta:
- Source:
- Título: Embo Molecular Medicine
- ISSN: 1757-4676
- Volume/Número/Paginação/Ano: v. 17, n. 1, p. 129-168, 2025
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
BAYAM, Efil et al. Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome. Embo Molecular Medicine, v. 17, n. 1, p. 129-168, 2025Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/85065. Acesso em: 29 jan. 2026. -
APA
Bayam, E., Tilly, P., Collins, S. C., Alvarez, J. R., Kannan, M., Tonneau, L., et al. (2025). Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome. Embo Molecular Medicine, 17( 1), 129-168. doi:10.1038/s44321-024-00178-z -
NLM
Bayam E, Tilly P, Collins SC, Alvarez JR, Kannan M, Tonneau L, Brivio E, Rinaldi B, Lecat R, Kok F. Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome [Internet]. Embo Molecular Medicine. 2025 ; 17( 1): 129-168.[citado 2026 jan. 29 ] Available from: https://observatorio.fm.usp.br/handle/OPI/85065 -
Vancouver
Bayam E, Tilly P, Collins SC, Alvarez JR, Kannan M, Tonneau L, Brivio E, Rinaldi B, Lecat R, Kok F. Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome [Internet]. Embo Molecular Medicine. 2025 ; 17( 1): 129-168.[citado 2026 jan. 29 ] Available from: https://observatorio.fm.usp.br/handle/OPI/85065 - Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
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Informações sobre o DOI: 10.1038/s44321-024-00178-z (Fonte: oaDOI API)
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