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- [2] Congenital hyperinsulinism associated with Kabuki syndrome due to KMT2D mutation HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 1): : 97 - 98
- [5] Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation FRONTIERS IN PEDIATRICS, 2024, 12
- [6] Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report FRONTIERS IN GENETICS, 2017, 8