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Importance of genetic testing in global health during the evaluation of familial microcephaly

A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is th...

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Molinero, Isaac, Broman‐Fulks, Jordan, Lyons, Michael J., Matheus, Maria Gisele, Chaubey, Alka, DuPont, Barbara R., Friez, Michael J., Skinner, Steve A., Holden, Kenton R.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5054472/
https://ncbi.nlm.nih.gov/pubmed/27761248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.669
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