Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome. [electronic resource]
- American journal of medical genetics. Part A Mar 2016
- 801-3 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.37499 doi
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