Nager syndrome: Confirmation of SF3B4 haploinsufficience as the major cause (2014)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1111/cge.12259
- Subjects: DISOSTOSE CRÂNIOFACIAL; ORGANELAS CELULARES; EXTREMIDADES (ANORMALIDADES); RNA MENSAGEIRO; GENES
- Language: Inglês
- Imprenta:
- Publisher place: Copenhagen
- Date published: 2014
- Source:
- Título: Clinical Genetics
- ISSN: 0009-9163
- Volume/Número/Paginação/Ano: v. 86, n. 3, p. 246-251, 2014
- Este artigo NÃO possui versão em acesso aberto
-
Status: Nenhuma versão em acesso aberto identificada -
ABNT
PETIT, F. et al. Nager syndrome: Confirmation of SF3B4 haploinsufficience as the major cause. Clinical Genetics, v. 86, n. 3, p. 246-251, 2014Tradução . . Disponível em: https://doi.org/10.1111/cge.12259. Acesso em: 12 mar. 2026. -
APA
Petit, F., Escande, F., Jourdain, A. S., Porchet, N., Amiel, J., Doray, B., et al. (2014). Nager syndrome: Confirmation of SF3B4 haploinsufficience as the major cause. Clinical Genetics, 86( 3), 246-251. doi:10.1111/cge.12259 -
NLM
Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Deirue MA, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M. Nager syndrome: Confirmation of SF3B4 haploinsufficience as the major cause [Internet]. Clinical Genetics. 2014 ; 86( 3): 246-251.[citado 2026 mar. 12 ] Available from: https://doi.org/10.1111/cge.12259 -
Vancouver
Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Deirue MA, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M. Nager syndrome: Confirmation of SF3B4 haploinsufficience as the major cause [Internet]. Clinical Genetics. 2014 ; 86( 3): 246-251.[citado 2026 mar. 12 ] Available from: https://doi.org/10.1111/cge.12259 - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
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