Article
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2023
Priestley Jessica R C, Rippert Alyssa L, Condit Courtney, Izumi Kosuke, Kallish Staci, Drivas Theodore G
Abstract excerpt
Kabuki syndrome is a recognizable Mendelian disorder characterized by the clinical constellation of childhood hypotonia, developmental delay or intellectual impairment, and characteristic dysmorphism resulting from monoallelic pathogenic variants in KMT2D or KDM6A. In the medical literature, most reported patients are children, and data is lacking on the natural history of the condition across the lifespan, with...
Topics
- Retrospective Studies
- Face
- Vestibular Diseases
- Abnormalities, Multiple
- Phenotype
- Mutation
- Humans
- Hematologic Diseases