Artigo de periodico

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case (2019)

• Authors:
  • Samogy-Costa, Claudia Ismania
  • Varella-Branco, Elisa
  • Monfardini, Frederico
  • Ferraz, Helen
  • Fock, Rodrigo Ambrosio
  • Barbosa, Ricardo Henrique Almeida
  • Pessoa, André Luiz Santos
  • Perez, Ana Beatriz Alvarez
  • Lourenço, Naila Cristina Vilaça
  • Vibranovski, Maria
  • Krepischi, Ana Cristina Victorino
  • Rosenberg, Carla
  • Passos-Bueno, Maria Rita
• USP affiliated authors: VIBRANOVSKI, MARIA DULCETTI - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; ROSENBERG, CARLA - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; COSTA, CLAUDIA ISMANIA SAMOGY - IB ; BRANCO, ELISA VARELLA - IB ; MONFARDINI, FREDERICO - Interunidades em Bioinformática
• Unidades: IB; Interunidades em Bioinformática
• DOI: 10.1186/s11689-019-9273-1
• Subjects: DOENÇAS GENÉTICAS; PESSOAS COM DEFICIÊNCIA INTELECTUAL; MUTAÇÃO GENÉTICA; TRANSTORNO DO ESPECTRO AUTISTA; DELEÇÃO DE GENES
• Keywords: Phelan-McDermid syndrome; 22q13.3 deletion syndrome; Autism spectrum disorder; SHANK3
• Agências de fomento:
  • Financiado pela FAPESP/ CEPID
  • Financiado pelo CNPq
  • Financiado pela CAPES
• Language: Inglês
• Imprenta:
  • Publisher place: London
  • Date published: 2019
• Source:
  • Título: Journal of Neurodevelopmental Disorders
  • ISSN: 1866-1947
  • Volume/Número/Paginação/Ano: v. 11, article 13, 2019


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• ABNT

  SAMOGY-COSTA, Claudia Ismania et al. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case. Journal of Neurodevelopmental Disorders, v. 11, 2019Tradução . . Disponível em: https://doi.org/10.1186/s11689-019-9273-1. Acesso em: 01 abr. 2026.

• APA

  Samogy-Costa, C. I., Varella-Branco, E., Monfardini, F., Ferraz, H., Fock, R. A., Barbosa, R. H. A., et al. (2019). A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case. Journal of Neurodevelopmental Disorders, 11. doi:10.1186/s11689-019-9273-1

• NLM

  Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço NCV, Vibranovski M, Krepischi ACV, Rosenberg C, Passos-Bueno MR. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case [Internet]. Journal of Neurodevelopmental Disorders. 2019 ; 11[citado 2026 abr. 01 ] Available from: https://doi.org/10.1186/s11689-019-9273-1

• Vancouver

  Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço NCV, Vibranovski M, Krepischi ACV, Rosenberg C, Passos-Bueno MR. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case [Internet]. Journal of Neurodevelopmental Disorders. 2019 ; 11[citado 2026 abr. 01 ] Available from: https://doi.org/10.1186/s11689-019-9273-1

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