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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054472/
https://www.ncbi.nlm.nih.gov/pubmed/27761248
http://dx.doi.org/10.1002/ccr3.669

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054472/
https://www.ncbi.nlm.nih.gov/pubmed/27761248
http://dx.doi.org/10.1002/ccr3.669

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