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Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Claire E L SmithVirginie Laugel-HaushalterUmmey HanySunayna BestRachel L TaylorJames A PoulterSaskia B WortmannRené Günther FeichtingerJohannes A MayrSuhaila Al BahlaniGeorgios NikolopoulosAlice RigbyGraeme C BlackChristopher Mark WatsonSahar MansourChris F InglehearnAlan J MighellAgnès Bloch-Zupannull null
Published in: Journal of medical genetics (2024)
have not been reported previously.
Keyphrases
  • intellectual disability
  • hearing loss
  • autism spectrum disorder
  • copy number
  • genome wide