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BOC is a Modifier Gene in Holoprosencephaly
Holoprosencephaly (HPE), a common developmental defect of the forebrain and midface, has a complex etiology. Heterozygous, loss-of-function mutations in the Sonic hedgehog (SHH) pathway are associated with HPE. However, mutation carriers display highly variable clinical presentation, leading to an “...
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| Gepubliceerd in: | Hum Mutat |
|---|---|
| Hoofdauteurs: | , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5673120/ https://ncbi.nlm.nih.gov/pubmed/28677295 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23286 |
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