A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

Loïc CouloignerMarc PlanesChandran KaSéverine Audebert-BellangerSylvia RedonCaroline BenechKaren RouaultSébastien KürySylviane PeudenierSandrine AutretIsabelle GourlaouenDominique BonneauSylvie OdentStéphane BézieauBrigitte Gilbert-DussardierAnnick ToutainAnne BolandJean-François DeleuzeCédric Le MarechalGérald Le GacClaude FerecKévin Uguen

Published in: Clinical genetics (2022)

Keyphrases

copy number
case report
gene expression