GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1

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:...

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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2011
Matèries:
Hot Topics in Translational Endocrinology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3205899/
https://ncbi.nlm.nih.gov/pubmed/21880801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-0518
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