Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears (2013)
- Authors:
- Gordon, Christopher J
- Petit, Florence
- Kroisel, Peter Michael
- Jakobsen, Linda
- Zechi-Ceide, Roseli Maria
- Oufadem, Myriam
- Bole-Feysot, C
- Pruvost, Solenn
- Masson, Cécile
- Tores, Frédéric
- Hieu, Thierry
- Nitschké, Patrick
- Lindholm, Pernille
- Pellerin, Philippe
- Guion-Almeida, Maria Leine
- Nakata, Nancy Mizue Kokitsu
- Pittoli, Siulan Vendramini Paulovich
- Munnich, Arnold
- Lyonnet, Stanislas
- Holder-Espinasse, Muriel
- Amiel, Jeanne
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; PITTOLI, SIULAN VENDRAMINI PAULOVICH - HRAC
- Unidade: HRAC
- DOI: 10.1016/j.ajhg.2013.10.023
- Subjects: OTOPATIAS; FENÓTIPOS; ENDOTELINAS
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Human Genetics
- Volume/Número/Paginação/Ano: v. 93, n. 6, p. 1118-1125, Dec. 2013
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
- Licença: publisher-specific-oa
-
ABNT
GORDON, Christopher J et al. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. American Journal of Human Genetics, v. 93, n. 6, p. 1118-1125, 2013Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2013.10.023. Acesso em: 05 nov. 2024. -
APA
Gordon, C. J., Petit, F., Kroisel, P. M., Jakobsen, L., Zechi-Ceide, R. M., Oufadem, M., et al. (2013). Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. American Journal of Human Genetics, 93( 6), 1118-1125. doi:10.1016/j.ajhg.2013.10.023 -
NLM
Gordon CJ, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Nakata NMK, Pittoli SVP, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears [Internet]. American Journal of Human Genetics. 2013 ; 93( 6): 1118-1125.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.ajhg.2013.10.023 -
Vancouver
Gordon CJ, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Nakata NMK, Pittoli SVP, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears [Internet]. American Journal of Human Genetics. 2013 ; 93( 6): 1118-1125.[citado 2024 nov. 05 ] Available from: https://doi.org/10.1016/j.ajhg.2013.10.023 - Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding
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Informações sobre o DOI: 10.1016/j.ajhg.2013.10.023 (Fonte: oaDOI API)
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