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Article

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.

Human genetics - 1 Jan 2021

Cangiano Biagio, Swee Du Soon, Quinton Richard, Bonomi Marco

Abstract excerpt

A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next-generation sequencing (NGS) techniques have led to the discovery of a great number of loci, each of which has illuminated our understanding of human gonadotropin-releasing hormone (GnRH) neurons, either in respect of their embryonic development...

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PMID: 32200437
DOI: 10.1007/s00439-020-02147-1

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