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Kabuki syndrome
- ... KMT2D gene have been identified in people with Kabuki syndrome, a disorder characterized by distinctive facial features, intellectual ... the body.The KMT2D gene variants associated with Kabuki syndrome change one building block (amino acid) in the ...
- ... KDM6A gene have been identified in people with Kabuki syndrome, a disorder characterized by distinctive facial features, intellectual ... Most of the KDM6A gene variants associated with Kabuki syndrome remove (delete) genetic material in the KDM6A gene ...
