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
- Samogy-Costa, Claudia Ismania
- 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:
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Neurodevelopmental Disorders
- ISSN: 1866-1947
- Volume/Número/Paginação/Ano: v. 11, article 13, 2019
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by
-
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: 28 dez. 2025. -
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 2025 dez. 28 ] 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 2025 dez. 28 ] Available from: https://doi.org/10.1186/s11689-019-9273-1 - Cytogenetically visible inversions are formed by multiple molecular mechanisms
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Informações sobre o DOI: 10.1186/s11689-019-9273-1 (Fonte: oaDOI API)
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