Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features. [electronic resource]
Producer: 20190930Description: 847-853 p. digitalISSN:- 1573-2592
- Agammaglobulinemia
- Chromosomal Instability
- Cytogenetic Analysis
- DNA (Cytosine-5-)-Methyltransferases -- genetics
- DNA Helicases -- genetics
- Face -- abnormalities
- Facial Asymmetry
- Humans
- Immunoglobulins, Intravenous -- therapeutic use
- Immunologic Deficiency Syndromes -- diagnosis
- Mutation -- genetics
- Pathology, Molecular
- Pedigree
- Primary Immunodeficiency Diseases
- Repressor Proteins -- genetics
- Saudi Arabia
- Exome Sequencing
- DNA Methyltransferase 3B
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Publication Type: Letter
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