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Tags: Sterbenz G

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Exome Sequencing Identifies a Novel EP300 Frame Shift Mutation in a Patient With Features That Overlap Cornelia de Lange Syndrome

Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A,…

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