Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome (2015)
- Authors:
- Yamamoto, Guilherme Lopes
- Aguena, Meire
- Gos, Monika
- Hung, Christina
- Pilch, Jacek
- Fahiminiya, Somayyeh
- Abramowicz, Anna
- Cristian, Ingrid
- Buscarilli, Michelle
- Naslavsky, Michel
- Malaquias, Alexsandra C.
- Zatz, Mayana
- Bodamer, Olaf
- Majewski, Jacek
- Jorge, Alexander A. L.
- Pereira, Alexandre C.
- Kim, Chong Ae
- Passos-Bueno, Maria Rita
- Bertola, Débora Romeo
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; ZATZ, MAYANA - IB ; KIM, CHONG AE - FM ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; BERTOLA, DÉBORA ROMEO - IB
- Unidades: FM; IB
- DOI: 10.1136/jmedgenet-2015-103018
- Subjects: ESTUDOS DE COORTES; ESTATÍSTICA (MÉTODOS); ANORMALIDADES CARDIOVASCULARES; ANORMALIDADES CRANIOFACIAIS
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 52, n. 6, p. 413-421, 2015
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
YAMAMOTO, Guilherme Lopes et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, v. 52, n. 6, p. 413-421, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2015-103018. Acesso em: 20 fev. 2026. -
APA
Yamamoto, G. L., Aguena, M., Gos, M., Hung, C., Pilch, J., Fahiminiya, S., et al. (2015). Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, 52( 6), 413-421. doi:10.1136/jmedgenet-2015-103018 -
NLM
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2026 fev. 20 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018 -
Vancouver
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2026 fev. 20 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018 - The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype
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Informações sobre o DOI: 10.1136/jmedgenet-2015-103018 (Fonte: oaDOI API)
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