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Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

DOIFull Paper Access

174

Citations

39

References

2013

Year

Flavia Amanda Costa‐Barbosa, Ravikumar Balasubramanian, Kimberly W. Keefe, Natalie D. Shaw, Nada Al Tassan, Lacey Plummer, Andrew Dwyer, Cassandra Buck, Jin‐Ho Choi, Stephanie B. Seminara,
The Journal of Clinical Endocrinology & Metabolism

Abstract

Certain clinical features in men and women are highly associated with genetic causes of KS. Synkinesia (KAL1), dental agenesis (FGF8/FGFR1), digital bony abnormalities (FGF8/FGFR1), and hearing loss (CHD7) can be useful for prioritizing genetic screening.

References

YearCitations

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