ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability (2025)
- Authors:
- USP affiliated authors: CARVALHO, LAURA MACHADO LARA - IB ; BERTOLA, DÉBORA ROMEO - IB ; ROSENBERG, CARLA - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; MACHADO, ANA CLAUDIA DANTAS - IB ; VASCONCELOS, FELIPE TADEU GALANTE ROCHA DE - IB
- Unidade: IB
- DOI: 10.1007/s40142-025-00213-6
- Subjects: NEUROGENÉTICA; PESSOAS COM DEFICIÊNCIA INTELECTUAL; VARIAÇÃO GENÉTICA
- Agências de fomento:
- Language: Inglês
- Objetivos de Desenvolvimento Sustentável (ODS):
03. Saúde e bem-estar
- Imprenta:
- Publisher: Springer Healthcare
- Publisher place: Philadelphia
- Date published: 2025
- Source:
- Título: Current Genetic Medicine Reports
- ISSN: 2167-4876
- Volume/Número/Paginação/Ano: v. 13, article number 2, 2025
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
MACHADO, Ana Claudia Dantas et al. ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability. Current Genetic Medicine Reports, v. 13, 2025Tradução . . Disponível em: https://doi.org/10.1007/s40142-025-00213-6. Acesso em: 28 fev. 2026. -
APA
Machado, A. C. D., Carvalho, L. M. L., Vasconcelos, F. T. G. R. de, Bertola, D. R., Rosenberg, C., & Krepischi, A. C. V. (2025). ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability. Current Genetic Medicine Reports, 13. doi:10.1007/s40142-025-00213-6 -
NLM
Machado ACD, Carvalho LML, Vasconcelos FTGR de, Bertola DR, Rosenberg C, Krepischi ACV. ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability [Internet]. Current Genetic Medicine Reports. 2025 ; 13[citado 2026 fev. 28 ] Available from: https://doi.org/10.1007/s40142-025-00213-6 -
Vancouver
Machado ACD, Carvalho LML, Vasconcelos FTGR de, Bertola DR, Rosenberg C, Krepischi ACV. ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability [Internet]. Current Genetic Medicine Reports. 2025 ; 13[citado 2026 fev. 28 ] Available from: https://doi.org/10.1007/s40142-025-00213-6 - A comprehensive review of syndromic forms of obesity: genetic etiology, clinical features and molecular diagnosis
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Informações sobre o DOI: 10.1007/s40142-025-00213-6 (Fonte: oaDOI API)
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