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- Title
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
- Authors
Orrico, Alfredo; Galli, Lucia; Clayton-Smith, Jill; Fryns, Jean-Pierre
- Abstract
The article focuses on genetic testing for Aarskog-Scott syndrome (AAS) or faciogenital dysplasia. It presents a series of questions that should be answered prior to the administration of the said test including effect of disease management to test result, effect of the test result to lifestyle and prevention, and test's effectiveness in resolving genetic situation in the family. Moreover, denaturing high-performance liquid chromatography can help detect point mutations in affected individuals.
- Subjects
AARSKOG syndrome; HUMAN chromosome abnormality diagnosis; DYSPLASIA; DISEASE management; GENETIC mutation; HIGH performance liquid chromatography; DIAGNOSIS
- Publication
European Journal of Human Genetics, 2011, Vol 19, Issue 11, p1
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2011.108