Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD (2020)
- Authors:
- USP affiliated authors: XAVIER, ANA CLAUDIA LATRÔNICO - FM ; MONTENEGRO, LUCIANA RIBEIRO - FM
- Unidade: FM
- DOI: 10.1136/jmedgenet-2019-106470
- Subjects: TRANSTORNO DO DEFICIT DE ATENÇÃO COM HIPERATIVIDADE; TRANSTORNO AUTÍSTICO; PREDISPOSIÇÃO GENÉTICA PARA DOENÇA; FENÓTIPOS; PESSOAS COM DEFICIÊNCIA INTELECTUAL
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of medical genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 57, n. 10, p. 717-724, 2020
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
GRANADILLO, Jorge Luis et al. Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. Journal of medical genetics, v. 57, n. 10, p. 717-724, 2020Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2019-106470. Acesso em: 27 dez. 2025. -
APA
Granadillo, J. L., Stegmann, A. P. A., Guo, H., Xia, K., Angle, B., Bontempo, K., et al. (2020). Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. Journal of medical genetics, 57( 10), 717-724. doi:10.1136/jmedgenet-2019-106470 -
NLM
Granadillo JL, Stegmann APA, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Xavier ACL, Montenegro LR. Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD [Internet]. Journal of medical genetics. 2020 ; 57( 10): 717-724.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1136/jmedgenet-2019-106470 -
Vancouver
Granadillo JL, Stegmann APA, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Xavier ACL, Montenegro LR. Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD [Internet]. Journal of medical genetics. 2020 ; 57( 10): 717-724.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1136/jmedgenet-2019-106470 - Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination
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Informações sobre o DOI: 10.1136/jmedgenet-2019-106470 (Fonte: oaDOI API)
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