Artigo de periodico

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (2012)

• Authors:
  • Molin, A. M
  • Andrieux, J
  • Koolen, D. A
  • Malan, V
  • Carella, M
  • Colleaux, L
  • Cormier-Daire, V
  • David, A
  • Leeuw, N de
  • Delobel, B
  • Duban-Bedu, B
  • Fischetto, R
  • Flinter, F
  • Kjaergaard, S
  • Kok, Fernando
  • Krepischi, Ana Cristina Victorino
  • Le Caignec, C
  • Mackie Ogilvie, C
  • Maia, S
  • Mathieu-Dramard, M
  • Minnich, A
  • Palumbo, O
  • Papadia, F
  • Pfundt, R
  • Reardon, W
  • Receveur, A
  • Rio, M
  • Ronsbro Darling,L
  • Rosenberg, Carla
  • Sá, J
  • Vallee, L
  • Vincent-Delorme, C
  • Zelante, L
  • Bondeson, M-L
  • Annerén, G
• Autor USP: ROSENBERG, CARLA - IB
• Unidade: IB
• DOI: 10.1136/jmedgenet-2011-100534
• Subjects: RETARDO MENTAL; GENÓTIPOS; FENÓTIPOS; ANOMALIA FACIAL; GENÉTICA MÉDICA
• Language: Inglês
• Imprenta:
  • Publisher place: London
  • Date published: 2012
• Source:
  • Título: Journal of Medical Genetics
  • ISSN: 0022-2593
  • Volume/Número/Paginação/Ano: v. 49, n. 2, p. 104-109, Feb. 2012

Informações sobre o DOI: 10.1136/jmedgenet-2011-100534 (Fonte: oaDOI API)
• Este periódico é de assinatura
• Este artigo é de acesso aberto
• URL de acesso aberto
• Cor do Acesso Aberto: hybrid
• Licença: cc-by-nc

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How to cite

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• ABNT

  MOLIN, A. M et al. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, v. 49, n. 2, p. 104-109, 2012Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2011-100534. Acesso em: 17 out. 2024.

• APA

  Molin, A. M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., et al. (2012). A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, 49( 2), 104-109. doi:10.1136/jmedgenet-2011-100534

• NLM

  Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 out. 17 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534

• Vancouver

  Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 out. 17 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534

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