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SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly
Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions which are known to cause HPE. Both chromosomal microarray and whole exome sequencing (WES) were used to evaluated familie...
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| Publicado no: | Congenit Anom (Kyoto) |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5750110/ https://ncbi.nlm.nih.gov/pubmed/28670735 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cga.12234 |
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