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


DEMIRBILEK H., OZBEK M. N. , DEMIR K., KOTAN L. D. , Cesur Y. , Dogan M., ...Daha Fazla

CLINICAL ENDOCRINOLOGY, cilt.82, ss.429-438, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 82 Konu: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1111/cen.12618
  • Dergi Adı: CLINICAL ENDOCRINOLOGY
  • Sayfa Sayıları: ss.429-438

Özet

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.