Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (2015)
- Authors:
- Verloes, Alain
- Di Donato, Nataliya
- Masliah-Planchon, Julien
- Jongmans, Marjolijn
- Abdul-Raman, Omar A.
- Albrecht, Beate
- Allanson, Judith
- Brunnner, Han
- Bertola, Débora
- Chassaing, Nicolas
- David, Albert
- Devriendt, Koen
- Eftekhari, Pirayeh
- Drouin-Garraud, Valérie
- Faravelli, Francesca
- Faivre, Laurence
- Giuliano, Fabienne
- Guion-Almeida, Maria Leine
- Juncos, Jorge
- Kempers, Marlies
- Eker, Hatice Koçak
- Lacombe, Didier
- Lin, Angela
- Mancini, Grazia
- Melis, Daniela
- Lourenço, Charles Marques
- Siu, Victoria Mok
- Morin, Gilles
- Nezarati, Marjan
- Nowaczyk, Malgorzata J. M.
- Ramer, Jeanette C.
- Osimani, Sara
- Philip, Nicole
- Pierpont, Mary Ella
- Procraccio, Vincent
- Zechi-Ceide, Roseli Maria
- Rossi, Massimiliano
- Rusu, Cristina
- Sznajer, Yves
- Templin, Ludivine
- Uliana, Vera
- Klaus, Mirjam
- Van Bon, Bregje
- Van Ravenswaaij, Conny
- Wainer, Bruce
- Fry, Andrew E.
- Rump, Andreas
- Hoischen, Alexander
- Drunat, Séverine
- Rivière, Jean-Baptiste
- Dobyns, William B.
- Pilz, Daniela T.
- USP affiliated authors: ALMEIDA, MARIA LEINE GUION DE - HRAC ; CEIDE, ROSELI MARIA ZECHI - HRAC
- Unidade: HRAC
- DOI: 10.1038/ejhg.2014.95
- Subjects: GENÉTICA MÉDICA; ANORMALIDADES CRANIOFACIAIS; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: European Journal of Human Genetics
- ISSN: 1018-4813
- Volume/Número/Paginação/Ano: v. 23, n. 3, p. 292-301, Mar. 2015
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
VERLOES, Alain et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, v. 23, n. 3, p. 292-301, 2015Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2014.95. Acesso em: 04 ago. 2025. -
APA
Verloes, A., Di Donato, N., Masliah-Planchon, J., Jongmans, M., Abdul-Raman, O. A., Albrecht, B., et al. (2015). Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, 23( 3), 292-301. doi:10.1038/ejhg.2014.95 -
NLM
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunnner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion-Almeida ML, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procraccio V, Zechi-Ceide RM, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases [Internet]. European Journal of Human Genetics. 2015 ; 23( 3): 292-301.[citado 2025 ago. 04 ] Available from: https://doi.org/10.1038/ejhg.2014.95 -
Vancouver
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunnner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion-Almeida ML, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procraccio V, Zechi-Ceide RM, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases [Internet]. European Journal of Human Genetics. 2015 ; 23( 3): 292-301.[citado 2025 ago. 04 ] Available from: https://doi.org/10.1038/ejhg.2014.95 - Mutação no gene EFTUD2 em um caso familial com disostose mandibulofacial tipo Guion-Almeida
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Informações sobre o DOI: 10.1038/ejhg.2014.95 (Fonte: oaDOI API)
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