Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation
Abstract 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 syntelen...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2020-07-01
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| Col·lecció: | Clinical Case Reports |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/ccr3.2896 |
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