Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features (2015)
- Authors:
- USP affiliated authors: MAGALHÃES, MONIZE LAZAR - IB ; ROCHA, KATIA MARIA DA - IB ; ZATZ, MAYANA - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; KIM, CHONG AE - FM
- Unidades: IB; FM
- DOI: 10.1002/ajmg.a.36789
- Subjects: GENÉTICA MÉDICA; DOENÇAS GENÉTICAS; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Medical Genetics
- Volume/Número/Paginação/Ano: p. on-line., 2015
- Status:
- Artigo possui versão em acesso aberto em repositório (Green Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
CARVALHO, Ellaine et al. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, p. on-line., 2015Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36789. Acesso em: 08 abr. 2026. -
APA
Carvalho, E., Honjo, R., Magalhães, M., Yamamoto, G., Rocha, K., Naslavsky, M., et al. (2015). Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, on-line. doi:10.1002/ajmg.a.36789 -
NLM
Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2026 abr. 08 ] Available from: https://doi.org/10.1002/ajmg.a.36789 -
Vancouver
Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2026 abr. 08 ] Available from: https://doi.org/10.1002/ajmg.a.36789 - Centro de Estudos do Genoma Humano: Seis anos de experiência no diagnóstico molecular da Síndrome de Rett
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