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pro vyhledávání: '"Vanessa Gouder de Beauregard"'
Autor:
Caroline Gounongbé, Martina Marangoni, Vanessa Gouder de Beauregard, Mélanie Delaunoy, Patrice Jissendi, Marie Cassart, Julie Désir
Publikováno v:
Clinical Case Reports, Vol 8, Iss 7, Pp 1287-1292 (2020)
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 mi
Externí odkaz:
https://doaj.org/article/e4bc531585524f3fb010cc48d3527a6b
Autor:
Marie Cassart, Julie Désir, Patrice Jissendi, Mélanie Delaunoy, Vanessa Gouder de Beauregard, Caroline Gounongbé, Martina Marangoni
Publikováno v:
Clinical Case Reports, Vol 8, Iss 7, Pp 1287-1292 (2020)
Clinical Case Reports
Clinical Case Reports
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 mu