Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome. [electronic resource]
Producer: 20161104Description: 801-3 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- diagnosis
- Alleles
- Complement System Proteins -- immunology
- Face -- abnormalities
- Gene Frequency
- Genetic Diseases, X-Linked -- diagnosis
- Hematologic Diseases -- diagnosis
- Hemizygote
- Histone Demethylases -- genetics
- Humans
- Immunity, Humoral
- Immunoglobulin Isotypes -- blood
- Infant
- Lymphocyte Activation -- immunology
- Lymphocyte Subsets -- immunology
- Male
- Mutation
- Nuclear Proteins -- genetics
- Transmembrane Activator and CAML Interactor Protein -- genetics
- Vestibular Diseases -- diagnosis
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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