Identification of a novel mutation Arg118Gly in the TWIST1 gene causing Saethre-Chotzen syndrome (2013)
- Authors:
- USP affiliated authors: RAMOS, ESTER SILVEIRA - FMRP ; SILVA JUNIOR, WILSON ARAÚJO DA - FMRP ; MARTELLI, LUCIA REGINA - FMRP ; MOLFETTA, GREICE ANDREOTTI DE - FMRP
- Unidade: FMRP
- Subjects: CRANIOSSINOSTOSE; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Abstracts
- Conference titles: Annual Meeting of the American Society of Human Genetics
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ABNT
CASTRO, M. L. M et al. Identification of a novel mutation Arg118Gly in the TWIST1 gene causing Saethre-Chotzen syndrome. 2013, Anais.. Boston: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 2013. . Acesso em: 29 set. 2024. -
APA
Castro, M. L. M., Grangeiro, C. H. P., Quaresemin, N. R., Leprevost, C. M., Josahkian, J. A., Laureano, L. A. F., et al. (2013). Identification of a novel mutation Arg118Gly in the TWIST1 gene causing Saethre-Chotzen syndrome. In Abstracts. Boston: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. -
NLM
Castro MLM, Grangeiro CHP, Quaresemin NR, Leprevost CM, Josahkian JA, Laureano LAF, Baratella WAR, Huber J, Ramos ES, Silva Júnior WA da, Martelli LR, Molfetta GA de. Identification of a novel mutation Arg118Gly in the TWIST1 gene causing Saethre-Chotzen syndrome. Abstracts. 2013 ;[citado 2024 set. 29 ] -
Vancouver
Castro MLM, Grangeiro CHP, Quaresemin NR, Leprevost CM, Josahkian JA, Laureano LAF, Baratella WAR, Huber J, Ramos ES, Silva Júnior WA da, Martelli LR, Molfetta GA de. Identification of a novel mutation Arg118Gly in the TWIST1 gene causing Saethre-Chotzen syndrome. Abstracts. 2013 ;[citado 2024 set. 29 ] - Laboratorial diagnosis of the Fragile X syndrome: a fast, reliable and effective methodological approach supporting the Genetic Counseling services
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