Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

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 phenoty...

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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2013
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JCEM Online: Advances in Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3644607/
https://ncbi.nlm.nih.gov/pubmed/23533228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-4116
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