Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity. [electronic resource]
Producer: 20170130Description: 82-86 p. digitalISSN:- 1578-1267
- Adrenal Cortex Hormones -- therapeutic use
- Autoimmunity -- genetics
- Child
- Cytidine Deaminase -- genetics
- DNA Mutational Analysis
- Dwarfism, Pituitary -- genetics
- Female
- Genotype
- Growth Hormone -- therapeutic use
- Hormone Replacement Therapy
- Humans
- Hyper-IgM Immunodeficiency Syndrome -- genetics
- Immunoglobulin M -- blood
- Infant
- Iran
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- AICDA (Activation-Induced Cytidine Deaminase)
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Publication Type: Case Reports; Journal Article
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