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Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.

Giacomo CinnirellaRachel L TaylorClaudio CocoFrancesca PiluduAntonello VidiriLorenzo SinibaldiUwe KornakGraeme BlackFrancesco Brancati
Published in: Clinical genetics (2020)
Craniosynostosis-microphthalmia linked to BCOR haploinsufficiency.
Keyphrases
  • clear cell
  • case report