A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state (2012)
- Authors:
- Freitas, Erika L - Universidade Estadual de Campinas (UNICAMP)
- Gribble, Susan M
- Simioni, Milena - Universidade Estadual de Campinas (UNICAMP)
- Vieira, Társis P - Universidade Estadual de Campinas (UNICAMP)
- Prigmore, Elena
- Krepischi, Ana Cristina Victorino
- Rosenberg, Carla
- Pearson, Peter L
- Melo, Débora G - Universidade Federal de São Carlos (UFSCar)
- Lopes, Vera Lúcia Gil-da-Silva - Universidade Estadual de Campinas (UNICAMP)
- Autor USP: ROSENBERG, CARLA - IB
- Unidade: IB
- DOI: 10.1016/j.ejmg.2012.06.015
- Subjects: MUTAÇÃO GENÉTICA; MALFORMAÇÕES; ANOMALIA CRANIOFACIAL; ACONSELHAMENTO GENÉTICO
- Language: Inglês
- Imprenta:
- Publisher place: Issy les Moulineaux
- Date published: 2012
- Source:
- Título do periódico: European Journal of Medical Genetics
- ISSN: 1769-7212
- Volume/Número/Paginação/Ano: v. 55, n. 11, p.660-665, Nov. 2012
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: hybrid
- Licença: publisher-specific-oa
-
ABNT
FREITAS, Erika L et al. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. European Journal of Medical Genetics, v. No 2012, n. 11, p. 660-665, 2012Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2012.06.015. Acesso em: 28 mar. 2024. -
APA
Freitas, E. L., Gribble, S. M., Simioni, M., Vieira, T. P., Prigmore, E., Krepischi, A. C. V., et al. (2012). A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. European Journal of Medical Genetics, No 2012( 11), 660-665. doi:10.1016/j.ejmg.2012.06.015 -
NLM
Freitas EL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi ACV, Rosenberg C, Pearson PL, Melo DG, Lopes VLG-da-S. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state [Internet]. European Journal of Medical Genetics. 2012 ; No 2012( 11): 660-665.[citado 2024 mar. 28 ] Available from: https://doi.org/10.1016/j.ejmg.2012.06.015 -
Vancouver
Freitas EL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi ACV, Rosenberg C, Pearson PL, Melo DG, Lopes VLG-da-S. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state [Internet]. European Journal of Medical Genetics. 2012 ; No 2012( 11): 660-665.[citado 2024 mar. 28 ] Available from: https://doi.org/10.1016/j.ejmg.2012.06.015 - Number of rare germline CNVs and TP53 mutation types
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Informações sobre o DOI: 10.1016/j.ejmg.2012.06.015 (Fonte: oaDOI API)
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