Associated Papers
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 et al.
Clinical Endocrinology, 2015
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.
Breuer O et al.
European Journal of Endocrinology, 2012
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