Article
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
The Journal of clinical endocrinology and metabolism - 1 Nov 2011
Chan Yee-Ming, Broder-Fingert Sarabeth, Paraschos Sophia, Lapatto Risto, Au Margaret, Hughes Virginia, Bianco Suzy D C, Min Le, Plummer Lacey, Cerrato Felecia, De Guillebon Adelaide, Wu I-Hsuan, Wahab Fazal, Dwyer Andrew, Kirsch Susan, Quinton Richard, Cheetham Timothy, Ozata Metin, Ten Svetlana, Chanoine Jean-Pierre, Pitteloud Nelly, Martin Kathryn A, Schiffmann Raphael, Van der Kamp Hetty J, Nader Shahla, Hall Janet E, Kaiser Ursula B, Seminara Stephanie B
Abstract excerpt
CONTEXT: KISS1 is a candidate gene for GnRH deficiency. OBJECTIVE: Our objective was to identify deleterious mutations in KISS1. PATIENTS AND METHODS: DNA sequencing and assessment of the effects of rare sequence variants (RSV) were conducted in 1025 probands with GnRH-deficient conditions. RESULTS: Fifteen probands harbored 10 heterozygous RSV in KISS1 seen in less than 1% of control subjects. Of the variants...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.