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Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

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2015-03-01
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DEMIRBILEK, Huseyin
OZBEK, M. Nuri
DEMIR, Korcan
KOTAN, LEMAN DAMLA
Cesur, YAŞAR
Dogan, Murat
Temiz, Fatih
Mengen, Eda
GÜRBÜZ, FATİH
YÜKSEL, BİLGİN
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Abstract
ObjectiveThe spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism.
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DEMIRBILEK H., OZBEK M. N. , DEMIR K., KOTAN L. D. , Cesur Y., Dogan M., Temiz F., Mengen E., GÜRBÜZ F., YÜKSEL B., et al., -Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families-, CLINICAL ENDOCRINOLOGY, cilt.82, ss.429-438, 2015
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https://hdl.handle.net/20.500.12645/8203
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