Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. [electronic resource]
Producer: 20100708Description: 938-42 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- genetics
- Child
- Child, Preschool
- Chronic Disease
- Contracture -- complications
- DNA Mutational Analysis
- Family
- Female
- Genetic Predisposition to Disease
- Humans
- Infant
- Infant, Newborn
- Joint Diseases -- complications
- Male
- Monomeric GTP-Binding Proteins -- genetics
- Mutation -- genetics
- Pedigree
- Pregnancy
- SAM Domain and HD Domain-Containing Protein 1
- Syndrome
- Urticaria -- complications
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Publication Type: Case Reports; Journal Article
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