Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.

Abstract excerpt

Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been identified as the main cause of KS, accounting for 56%-75% and 3%-8% of cases, respectively. Patients without mutations in 1 of the 2 causative KS genes are...

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• Share to Abnormalities, Multiple
• Share to Chromosomes, Human, Pair 11
• Share to Diagnosis, Differential