The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia (2013)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; OTTO, PAULO ALBERTO - IB ; MORGANTE, ANGELA MARIA VIANNA - IB
- Unidade: IB
- DOI: 10.1186/1471-2350-14-50
- Subjects: DOENÇAS GENÉTICAS; MUTAÇÃO GENÉTICA; GENÉTICA MÉDICA
- Language: Inglês
- Imprenta:
- Source:
- Título: BMC Medical Genetics
- ISSN: 1471-2350
- Volume/Número/Paginação/Ano: v. 14, n. 50, p. 1-10 (on-line), May 2013
- Status:
- Artigo publicado em periódico de acesso aberto (Gold Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
FONSECA, Ana Carolina S et al. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Medical Genetics, v. 14, n. 50, p. 1-10 (on-line), 2013Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-14-50. Acesso em: 02 abr. 2026. -
APA
Fonseca, A. C. S., Bonaldi, A., Bertola, D. R., Kim, C. A., Otto, P. A., & Vianna-Morgante, A. M. (2013). The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Medical Genetics, 14( 50), 1-10 (on-line). doi:10.1186/1471-2350-14-50 -
NLM
Fonseca ACS, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia [Internet]. BMC Medical Genetics. 2013 ; 14( 50): 1-10 (on-line).[citado 2026 abr. 02 ] Available from: https://doi.org/10.1186/1471-2350-14-50 -
Vancouver
Fonseca ACS, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia [Internet]. BMC Medical Genetics. 2013 ; 14( 50): 1-10 (on-line).[citado 2026 abr. 02 ] Available from: https://doi.org/10.1186/1471-2350-14-50 - Duplication restricted to ICR2 (KCNQ1, KCNQ1OT1 genes) at 11p15 segregating in a family with five children affected by Silver-Russel syndrome
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