Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders (2021)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; TOLEDO, RODRIGO ATIQUE FERRAZ DE - IB
- Unidade: IB
- DOI: 10.1136/jmedgenet-2020-107459
- Subjects: CRANIOSSINOSTOSE; ANORMALIDADES CRANIOFACIAIS; DOENÇAS CONGÊNITAS; MUTAÇÃO GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 1468-6244
- Volume/Número/Paginação/Ano: on-line
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: hybrid
- Licença: cc-by
-
ABNT
CALPENA, Eduardo et al. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2020-107459. Acesso em: 05 nov. 2024. -
APA
Calpena, E., Wurmser, M., McGowan, S. J., Atique, R., Bertola, D. R., Cunningham , M. L., et al. (2021). Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics. doi:10.1136/jmedgenet-2020-107459 -
NLM
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 nov. 05 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459 -
Vancouver
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 nov. 05 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459 - Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
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Informações sobre o DOI: 10.1136/jmedgenet-2020-107459 (Fonte: oaDOI API)
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