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Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing

Considering the prevalence of 22q11.2 deletion syndrome (22q11.2 DS) of around 1:4,000 and of palatal abnormalities in 70 % of the cases of 22q11.2 DS and taking into account the Brazilian health system and its current situation of medical genetic services, this study aims to contribute to establish...

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Detalhes bibliográficos
Main Authors: Vieira, Társis Paiva, Sgardioli, Ilária Cristina, Gil-da-Silva-Lopes, Vera Lúcia
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3537976/
https://ncbi.nlm.nih.gov/pubmed/23086469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-012-0123-z
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