A New BCl6 Transcriptional Corepressor Variant Mosaicism in a Fetus with Severe Fetal-Eye Anomalies

Andrés Malinger, Michael Brusilov, Daphna Mitzad Koresh, Mordechai Shohat, Gustavo Malinger

Research output: Contribution to journalArticlepeer-review

Abstract

We present the prenatal imaging of a fetus with severe eye anomalies diagnosed as carrying a new variant mosaicism on the BCOR gene.

Original languageEnglish
Pages (from-to)114-116
Number of pages3
JournalFetal Diagnosis and Therapy
Volume49
Issue number3
DOIs
StatePublished - 1 May 2022

Keywords

  • Congenital anomalies
  • Eye anomalies
  • Genetic disorder
  • Prenatal diagnosis
  • Third trimester

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