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Expanding the genetic spectrum ofANOS1mutations in patients with congenital hypogonadotropic hypogonadism
2017
Human Reproduction
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 novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis. WHAT IS KNOWN ALREADY: CHH is characterized by lack of pubertal development and infertility, due to deficient production,
doi:10.1093/humrep/dew354
pmid:28122887
fatcat:kpi4nhhfgzd4njg5j3bxcdumra