Article
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
The Journal of clinical endocrinology and metabolism - 1 May 2013
Costa-Barbosa Flavia Amanda, Balasubramanian Ravikumar, Keefe Kimberly W, Shaw Natalie D, Al-Tassan Nada, Plummer Lacey, Dwyer Andrew A, Buck Cassandra L, Choi Jin-Ho, Seminara Stephanie B, Quinton Richard, Monies Dorota, Meyer Brian, Hall Janet E, Pitteloud Nelly, Crowley William F
Abstract excerpt
CONTEXT: The complexity of genetic testing in Kallmann syndrome (KS) is growing and costly. Thus, it is important to leverage the clinical evaluations of KS patients to prioritize genetic screening. OBJECTIVE: The objective of the study was to determine which reproductive and nonreproductive phenotypes of KS subjects have implications for specific gene mutations. SUBJECTS: Two hundred nineteen KS patients were...
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