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New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism

14 Jun 2019

Abstract excerpt

CONTEXT: Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by GnRH deficiency. Several genes have been associated with the pathogenesis of CHH, but most cases still remain without a molecular diagnosis. The advent of next-generation sequencing (NGS) has allowed the simultaneous genotyping of several regions, faster, making possible the extension of the genetic knowledge of CHH. OBJECTIVE:...

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PMID: 31200363
DOI: 10.1530/eje-18-0764

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