Publication: 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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Date
2015-03-01
Institution Authors
Authors
DEMIRBILEK, Huseyin
OZBEK, M. Nuri
DEMIR, Korcan
KOTAN, LEMAN DAMLA
Cesur, YAŞAR
Dogan, Murat
Temiz, Fatih
Mengen, Eda
GÜRBÜZ, FATİH
YÜKSEL, BİLGİN
Journal Title
Journal ISSN
Volume Title
Publisher
Metrikler
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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Citation
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