Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador…·Frank J. Kaiser
This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.
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