Articles with "anos1 mutations" as a keyword



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Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism

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Published in 2017 at "Human Reproduction"

DOI: 10.1093/humrep/dew354

Abstract: STUDY QUESTION What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER Three of forty-two (7.1%) patients presented ANOS1 mutations, including a… read more here.

Keywords: anos1 mutations; congenital hypogonadotropic; hypogonadotropic hypogonadism; study ... See more keywords