Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Johannes G. Dauwerse, Martine van Belzen, Arie van Haeringen, Gijs van Santen, Christian van de Lans, Elisa Rahikkala, Livia Garavelli, Martijn Breuning, Raoul Hennekam, Dorien Peters

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Medicine & Life Sciences