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Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

Anne GuimierLoïc PontualStephen R BraddockErin TortiLuis A Pérez-JuradoPatricia Muñoz-CabelloMontserrat ArumíKristin G MonaghanHane LeeLee-Kai WangIlina D PluymSally Ann LynchKaren StalsSian EllardCécile MullerLucile HouyelLaurence CohenStanislas LyonnetFanny BajolleJeanne AmielChristopher T Gordon
Published in: Human molecular genetics (2022)
Keyphrases
  • intellectual disability
  • left ventricular
  • lower limb
  • heart failure
  • atrial fibrillation