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Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.

Sarah TaconetSophie DreuxFabien GuimiotMagali PettazzoniBichr AllafEmmanuel SpaggiariJonathan RosenblattSuonavy Khung-Savatovsky
Published in: Prenatal diagnosis (2020)
The finding of VLs in fetal effusions is an inexpensive first-line test that may help to prioritize biochemical and genetic tests for LSDs.
Keyphrases
  • genome wide
  • peripheral blood
  • copy number
  • gene expression
  • dna methylation