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Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G>A p.(Cys370Tyr)) in the ZIC2 gene. Our case represents the first prenatal description of a ZIC2 missense mutation found in association with syntelencephal...
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| Vydáno v: | Clin Case Rep |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7364085/ https://ncbi.nlm.nih.gov/pubmed/32695376 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2896 |
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