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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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| Veröffentlicht in: | Am J Med Genet C Semin Med Genet |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2018
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| Schlagworte: | |
| Online Zugang: | 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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