Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene (2008)
- Authors:
- USP affiliated authors: ALMEIDA, MARIA LEINE GUION DE - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidades: HRAC; IB
- DOI: 10.1097/mcd.0b013e3282fe1b8e
- Subjects: ANORMALIDADES MÚLTIPLAS; FENÓTIPOS; GENES
- Language: Inglês
- Imprenta:
- Source:
- Título: Clinical Dysmorphology
- ISSN: 0962-8827
- Volume/Número/Paginação/Ano: v. 17, n. 3, p. 225-226, July 2008
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
CEIDE, Roseli Maria Zechi et al. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clinical Dysmorphology, v. 17, n. 3, p. 225-226, 2008Tradução . . Disponível em: https://doi.org/10.1097/mcd.0b013e3282fe1b8e. Acesso em: 14 fev. 2026. -
APA
Ceide, R. M. Z., Oliveira, N. A. de J., Guion-Almeida, M. L., Antunes, L. F. B. B., Richieri-Costa, A., & Passos-Bueno, M. R. (2008). Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clinical Dysmorphology, 17( 3), 225-226. doi:10.1097/mcd.0b013e3282fe1b8e -
NLM
Ceide RMZ, Oliveira NA de J, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene [Internet]. Clinical Dysmorphology. 2008 ; 17( 3): 225-226.[citado 2026 fev. 14 ] Available from: https://doi.org/10.1097/mcd.0b013e3282fe1b8e -
Vancouver
Ceide RMZ, Oliveira NA de J, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene [Internet]. Clinical Dysmorphology. 2008 ; 17( 3): 225-226.[citado 2026 fev. 14 ] Available from: https://doi.org/10.1097/mcd.0b013e3282fe1b8e - Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
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Informações sobre o DOI: 10.1097/mcd.0b013e3282fe1b8e (Fonte: oaDOI API)
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