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Publication | Open Access

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

DOIFull Paper Access

162

Citations

32

References

2012

Year

Taneli Raivio, Magdalena Avbelj Stefanija, Mark J. McCabe, Christopher Romero, Andrew Dwyer, Johanna Tommiska, Gerasimos P. Sykiotis, Louise Gregory, Daniel Diaczok, Vaitsa Tziaferi,
The Journal of Clinical Endocrinology & Metabolism

Abstract

Mutations in FGFR1/FGF8/PROKR2 contributed to 7.8% of our patients with CPHD/SOD. These data suggest a significant genetic overlap between conditions affecting the development of anterior midline in the human forebrain.

References

YearCitations

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