Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (2014)
- Authors:
- Bear, Kelly A.
- Solomon, Benjamin D.
- Antonini, Sonir
- Arnhold, Ivo J. P.
- França, Marcela M.
- Gerkes, Erica H.
- Grange, Dorothy K.
- Hadley, Donald W.
- Jääskeläinen, Jarmo
- Paulo, Sabrina S.
- Rump, Patrick
- Stratakis, Constantine A.
- Thompson, Elizabeth M.
- Willis, Mary
- Winder, Thomas L.
- Jorge, Alexander A. L.
- Roessler, Erich
- Muenke, Maximilian
- Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1136/jmedgenet-2013-102249
- Subjects: FENÓTIPOS; MUTAÇÃO GENÉTICA; NEUROANATOMIA (ANOMALAIS); HOLOPROSENCEFALIA
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 51, n. 6, p. 413-418, 2014
- Status:
- Artigo possui acesso gratuito no site do editor (Bronze Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
BEAR, Kelly A. et al. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Journal of Medical Genetics, v. 51, n. 6, p. 413-418, 2014Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2013-102249. Acesso em: 15 abr. 2026. -
APA
Bear, K. A., Solomon, B. D., Antonini, S., Arnhold, I. J. P., França, M. M., Gerkes, E. H., et al. (2014). Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Journal of Medical Genetics, 51( 6), 413-418. doi:10.1136/jmedgenet-2013-102249 -
NLM
Bear KA, Solomon BD, Antonini S, Arnhold IJP, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AAL, Roessler E, Muenke M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly [Internet]. Journal of Medical Genetics. 2014 ; 51( 6): 413-418.[citado 2026 abr. 15 ] Available from: https://doi.org/10.1136/jmedgenet-2013-102249 -
Vancouver
Bear KA, Solomon BD, Antonini S, Arnhold IJP, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AAL, Roessler E, Muenke M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly [Internet]. Journal of Medical Genetics. 2014 ; 51( 6): 413-418.[citado 2026 abr. 15 ] Available from: https://doi.org/10.1136/jmedgenet-2013-102249 - The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
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