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Molecular Testing in Holoprosencephaly

Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic work-up for HPE has been a karyotype,...

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Dades bibliogràfiques
Publicat a:Am J Med Genet C Semin Med Genet
Autors principals: Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
Format: Artigo
Idioma:Inglês
Publicat: 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6125165/
https://ncbi.nlm.nih.gov/pubmed/29771000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31617
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