Why the study?
Does molecular genetic testing improve the diagnosis of Carney complex compared to clinical and pathologic findings alone in at-risk individuals?
Population
An individual from a family segregating the Carney complex, initially not thought to be affected.
Comparison
Molecular genetic testing vs Clinical and pathologic findings alone
Design
Case_report
Authors
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Case-level data suggest haplotype analysis aids Carney complex diagnosis; leaves open prospective validation before wider adoption.
Does molecular genetic testing improve the diagnosis of Carney complex compared to clinical and pathologic findings alone in at-risk individuals?
Molecular genetic analysis provides an important diagnostic method for Carney complex, overcoming difficulties in establishing a diagnosis based solely on clinical and pathologic findings.
Goldstein et al. (1999) studied this question.
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