KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis (2012)
- Authors:
- USP affiliated authors: KRIEGER, JOSE EDUARDO - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; BERTOLA, DÉBORA ROMEO - IB
- Unidades: FM; IB
- DOI: 10.1002/ajmg.a.35270
- Subjects: MUTAÇÃO GENÉTICA; CRANIOSSINOSTOSE; DOENÇAS HEREDITÁRIAS (GENÉTICA); NEUROFIBROMATOSES (GENÉTICA); FENÓTIPOS (ANÁLISE)
- Language: Inglês
- Imprenta:
- Source:
- Título: American journal of medical genetics part. A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: v. 158A, n. 5, p. 1178\20131184, 2012
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
BRASIL, Amanda S. et al. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. American journal of medical genetics part. A, v. 158A, n. 5, p. 1178\20131184, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35270. Acesso em: 27 fev. 2026. -
APA
Brasil, A. S., Malaquias, A. C., Kim, C. A., Krieger, J. E., Jorge, A. A. de L., Pereira, A. C., & Bertola, D. R. (2012). KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. American journal of medical genetics part. A, 158A( 5), 1178\20131184. doi:10.1002/ajmg.a.35270 -
NLM
Brasil AS, Malaquias AC, Kim CA, Krieger JE, Jorge AA de L, Pereira AC, Bertola DR. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis [Internet]. American journal of medical genetics part. A. 2012 ; 158A( 5): 1178\20131184.[citado 2026 fev. 27 ] Available from: https://doi.org/10.1002/ajmg.a.35270 -
Vancouver
Brasil AS, Malaquias AC, Kim CA, Krieger JE, Jorge AA de L, Pereira AC, Bertola DR. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis [Internet]. American journal of medical genetics part. A. 2012 ; 158A( 5): 1178\20131184.[citado 2026 fev. 27 ] Available from: https://doi.org/10.1002/ajmg.a.35270 - Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
- Tegumentary manifestations of Noonan and Noonan-related syndromes
- Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta]
- Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
- Growth Standards of Patients With Noonan and Noonan-Like Syndromes With Mutations in the RAS/MAPK Pathway
- Autoimmune disease and multiple autoantibodies is 42 patients with RASopathies
- Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways
- The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype
- Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan
- Contribuição para o estudo clínico e genético da síndrome de Noonan
Informações sobre o DOI: 10.1002/ajmg.a.35270 (Fonte: oaDOI API)
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