Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta] (2015)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidades: IB; FM
- DOI: 10.1002/ajmg.a.36954
- Subjects: MUTAÇÃO GENÉTICA; RECIDIVA; DIAGNÓSTICO POR COMPUTADOR; OSTEOCONDRODISPLASIAS
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Medical Genetics Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: VOL. 167A, n. 4, p. 894-901, 2015
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
SILVEIRA, Karina C. et al. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta]. American Journal of Medical Genetics Part A. Hoboken: Instituto de Biociências, Universidade de São Paulo. Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36954/epdf. Acesso em: 10 fev. 2026. , 2015 -
APA
Silveira, K. C., Bonadia, L. C., Superti-Furga, A., Bertola, D. R., Jorge, A. A. L., & Cavalcanti, D. P. (2015). Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta]. American Journal of Medical Genetics Part A. Hoboken: Instituto de Biociências, Universidade de São Paulo. doi:10.1002/ajmg.a.36954 -
NLM
Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AAL, Cavalcanti DP. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta] [Internet]. American Journal of Medical Genetics Part A. 2015 ;( 4): 894-901.[citado 2026 fev. 10 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36954/epdf -
Vancouver
Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AAL, Cavalcanti DP. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta] [Internet]. American Journal of Medical Genetics Part A. 2015 ;( 4): 894-901.[citado 2026 fev. 10 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36954/epdf - Tegumentary manifestations of Noonan and Noonan-related syndromes
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Informações sobre o DOI: 10.1002/ajmg.a.36954 (Fonte: oaDOI API)
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