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Perinatal, Metabolic and Reproductive Features in PPARG-related Lipodystrophy.

Camille GosseaumeThierry FournierIsabelle JéruMarie-Léone VignaudIsabelle MissotteFrançoise ArchambeaudXavier DebusscheCéline DroumaguetBruno FèveSophie GrillotBruno GuerciSylvie HieronimusYves HorsmansEstelle NobecourtCatherine PienkowskiChristine PoitouJean-Paul ThissenOlivier LascolsSéverine DegrelleVassilis TstsarisCorinne VigourouxCamille Vatier
Published in: European journal of endocrinology (2023)
Lipodystrophy-related PPARG variants induce early metabolic complications. Our results suggest that placental expression of PPARG pathogenic variants carried by affected fetuses could impair prenatal growth and parturition. This justifies careful pregnancy monitoring in affected families.
Keyphrases
  • pregnant women
  • copy number
  • poor prognosis
  • long non coding rna