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 do periódico: Clinical Genetics
- ISSN: 0009-9163
- Volume/Número/Paginação/Ano: v. 86, n. 3, p. 246-251, 2014
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
PETIT, F.; ESCANDE, F.; JOURDAIN, A. S.; et al. Nager syndrome: Confirmation of SF3B4 haploinsufficience as the major cause. Clinical Genetics, Copenhagen, v. 86, n. 3, p. 246-251, 2014. DOI: 10.1111/cge.12259. -
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. Clinical Genetics. 2014 ; 86( 3): 246-251. -
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. Clinical Genetics. 2014 ; 86( 3): 246-251. - Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion
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Informações sobre o DOI: 10.1111/cge.12259 (Fonte: oaDOI API)
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