A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis (2011)
- Authors:
- Autor USP: COSTA, ANTONIO RICHIERI DA - HRAC
- Unidade: HRAC
- DOI: 10.1097/MCD.0b013e32834116ae
- Subjects: HOLOPROSENCEFALIA; PROTEÍNAS DO TECIDO NERVOSO; FENÓTIPOS; IMAGEM POR RESSONÂNCIA MAGNÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: Clinical Dysmorphology
- ISSN: 0962-8827
- Volume/Número/Paginação/Ano: v. 20, n. 3, p. 160-162, July 2011
- Este periódico possui versão em assinatura (ou híbrida)
- Este artigo possui versão em acesso aberto
- URL de acesso aberto
- Versão: submittedVersion
- Licença: other-oa
- Evidência: deprecated
- Status do Acesso Aberto: green
-
ABNT
RIBEIRO, Lucilene Arilho et al. A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Clinical Dysmorphology, v. 20, n. 3, p. 160-162, 2011Tradução . . Disponível em: https://doi.org/10.1097/MCD.0b013e32834116ae. Acesso em: 10 mar. 2026. -
APA
Ribeiro, L. A., Bertolacini, C. D. P., Quiezi, R. G., & Richieri-Costa, A. (2011). A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Clinical Dysmorphology, 20( 3), 160-162. doi:10.1097/MCD.0b013e32834116ae -
NLM
Ribeiro LA, Bertolacini CDP, Quiezi RG, Richieri-Costa A. A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis [Internet]. Clinical Dysmorphology. 2011 ; 20( 3): 160-162.[citado 2026 mar. 10 ] Available from: https://doi.org/10.1097/MCD.0b013e32834116ae -
Vancouver
Ribeiro LA, Bertolacini CDP, Quiezi RG, Richieri-Costa A. A novel heterozygous missense mutation G316D of SIX3 gene in a brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis [Internet]. Clinical Dysmorphology. 2011 ; 20( 3): 160-162.[citado 2026 mar. 10 ] Available from: https://doi.org/10.1097/MCD.0b013e32834116ae - Noonan syndrome in diverse populations
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