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Consistent with molecularly diagnosed KMT2D mutations, patients with a clinical diagnosis of Kabuki syndrome showed susceptibility to infections, especially RTIs (75, 156–160, 169–171, 185, 187, 188), as well as a broad range of other infections (156–160, 184–188)

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[DOI] [PubMed] [Google Scholar] Sullivan LB, Martinez-Garcia E, Nguyen H, Mullen AR, Dufour E, Sudarshan S, Licht JD, Deberardinis RJ, Chandel NS