A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy - Spivak, Ilia; Lev, Atar; Simon, Amos J.; Barel, Ortal; Somekh, Ido; Somech, Raz (Immunogenetics (New York), 2025)
Keywords: Agammaglobulinemia; Allergology; Biomedical and Life Sciences; Biomedicine; Cardiomyopathies - genetics; Cardiomyopathy; Carrier Proteins - genetics; Cell Biology; Diarrhea; Exome Sequencing; Female; Gene Function; Gene sequencing; Genetic counseling; Genetic diversity; Genetic screening; Genetic variance; Heart; Human Genetics; Humans; Immune system; Immunodeficiency; Immunoglobulins; Immunologic Deficiency Syndromes - genetics; Immunology; Infant; Intravenous administration; Lymphocytes; Lymphocytes B; Lymphopenia; Male; Mutation; Patients; Short Communication; Whole genome sequencing; Cardiomyopathy; Primary immunodeficiency; FNIP1