Journal
FETAL DIAGNOSIS AND THERAPY
Volume 49, Issue 3, Pages 114-116Publisher
KARGER
DOI: 10.1159/000524360
Keywords
Congenital anomalies; Eye anomalies; Genetic disorder; Prenatal diagnosis; Third trimester
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This article presents prenatal imaging of a fetus with severe eye anomalies, which have been diagnosed as a new variant mosaicism on the BCOR gene.
We present the prenatal imaging of a fetus with severe eye anomalies diagnosed as carrying a new variant mosaicism on the BCOR gene.
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