Artigo de periodico

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome (2022)

• Authors:
  • Lima, Ariadne R.
  • Ferreira, Barbara M.
  • Zhang, Chaofan
  • Jolly, Angad
  • Du, Haowei
  • White, Janson J.
  • Dawood, Moez
  • Lins, Tulio C.
  • Chiabai, Marcela A.
  • van Beusekom, Ellen
  • Cordoba, Mara S.
  • Rosa, Erica C. C. Caldas
  • Kayserili, Hulya
  • Kimonis, Virginia
  • Wu, Erica
  • Mellado, Cecilia
  • Aggarwal, Vineet
  • Richieri-Costa, Antonio
  • Brunoni, Décio
  • Canó, Talyta M.
  • Jorge, Alexander A. L.
  • Kim, Chong Ae
  • Honjo, Rachel
  • Bertola, Débora R.
  • Dandalo-Girardi, Raissa M.
  • Bayram, Yavuz
  • Gezdirici, Alper
  • Yilmaz-Gulec, Elif
  • Gumus, Evren
  • Yilmaz, Gülay C.
  • Okamoto, Nobuhiko
  • Ohashi, Hirofumi
  • Coban–Akdemir, Zeynep
  • Mitani, Tadahiro
  • Jhangiani, Shalini N.
  • Muzny, Donna M.
  • Regattieri, Neysa A. P.
  • Pogue, Robert
  • Pereira, Rinaldo W.
  • Otto, Paulo A
  • Gibbs, Richard A.
  • Ali, Bassam R.
  • van Bokhoven, Hans
  • Brunner, Han G.
  • Sutton, V. Reid
  • Lupski, James R.
  • Vianna-Morgante, Angela M
  • Carvalho, Claudia M. B.
  • Mazzeu, Juliana F.
• USP affiliated authors: COSTA, ANTONIO RICHIERI DA - HRAC ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; KIM, CHONG AE - FM ; BERTOLA, DÉBORA ROMEO - IB ; OTTO, PAULO ALBERTO - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; GIRARDI, RAÍSSA MODAFFORE DANDALO - IB
• Unidades: HRAC; FM; IB
• DOI: 10.1002/humu.24375
• Subjects: FENÓTIPOS; MORFOLOGIA (ANATOMIA); SEQUENCIAMENTO GENÉTICO
• Agências de fomento:
  • Financiamento FAPESP
  • Financiamento CNPq
  • Financiamento CAPES
  • Financiamento NHGRI/NIH
  • Financiamento NHLBI
  • Financiamento NIGMS/NIH
  • Financiamento NICHD
• Language: Inglês
• Imprenta:
  • Publisher place: Hoboken
  • Date published: 2022
• Source:
  • Título: Human Mutation
  • ISSN: 1098-1004
  • Volume/Número/Paginação/Ano: v. 43, n. 7, p. 900-918, July 2022

Informações sobre o DOI: 10.1002/humu.24375 (Fonte: oaDOI API)
• Este periódico é de assinatura
• Este artigo é de acesso aberto
• URL de acesso aberto
• Cor do Acesso Aberto: green

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• ABNT

  LIMA, Ariadne R. et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, v. 43, n. 7, p. 900-918, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24375. Acesso em: 27 dez. 2025.

• APA

  Lima, A. R., Ferreira, B. M., Zhang, C., Jolly, A., Du, H., White, J. J., et al. (2022). Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, 43( 7), 900-918. doi:10.1002/humu.24375

• NLM

  Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1002/humu.24375

• Vancouver

  Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1002/humu.24375

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