The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype (2017)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; KIM, CHONG AE - FM
- Unidades: IB; FM
- DOI: 10.1002/ajmg.a.38070
- Subjects: MUTAÇÃO GENÉTICA; FENÓTIPOS; CROMOSSOMO X; PERDA AUDITIVA; ANORMALIDADES CRANIOFACIAIS; OSSOS FACIAIS; FISSURA PALATINA; DOENÇAS GENÉTICAS
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Medical Genetics. Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: on-line, p. 524-828, v. 173, n. 3, Mar. 2017
- Status:
- Artigo possui versão em acesso aberto em repositório (Green Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
BERTOLA, Débora et al. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. American Journal of Medical Genetics. Part A, v. 173, n. 3, p. 524-828, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38070. Acesso em: 02 abr. 2026. -
APA
Bertola, D., Yamamoto, G., Buscarilli, M., Jorge, A., Passos-Bueno, M. R., & Kim, C. A. (2017). The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. American Journal of Medical Genetics. Part A, 173( 3), 524-828. doi:10.1002/ajmg.a.38070 -
NLM
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim CA. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 3): 524-828.[citado 2026 abr. 02 ] Available from: https://doi.org/10.1002/ajmg.a.38070 -
Vancouver
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim CA. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 3): 524-828.[citado 2026 abr. 02 ] Available from: https://doi.org/10.1002/ajmg.a.38070 - Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
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