Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? (1997)
- Authors:
- USP affiliated authors: BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; COSTA, ANTONIO RICHIERI DA - HRAC
- Unidades: IB; HRAC
- DOI: 10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
- Subjects: SÍNDROMES OROFACIODIGITAIS; MUTAÇÃO; POLIMORFISMO
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Medical Genetics
- ISSN: 0148-7299
- Volume/Número/Paginação/Ano: v. 71, n. 2, p. 243-245, Aug. 1997
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
PASSOS-BUENO, Maria Rita e SERTIÉ, Andréa Laurato e RICHIERI-COSTA, Antonio. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?. American Journal of Medical Genetics, v. 71, n. 2, p. 243-245, 1997Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d. Acesso em: 28 abr. 2024. -
APA
Passos-Bueno, M. R., Sertié, A. L., & Richieri-Costa, A. (1997). Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? American Journal of Medical Genetics, 71( 2), 243-245. doi:10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d -
NLM
Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 abr. 28 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d -
Vancouver
Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 abr. 28 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d - Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?
- Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome
- Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study
- Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
- A new form of autosomal dominant late onset spinal muscular atrophy
- Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
- Tibial hemimelia-split hand/foot syndrome, report of a brazilian family
- Tibial hemimelia: report of a new brazilian family an overview
- Atypical craniofacial clefts: a syndromological approach
- A década da linguagem: os genes começam a falar
Informações sobre o DOI: 10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
