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<i>POU6F2</i> mutation identified in humans with pubertal failure shifts isoform formation and alters GnRH transcript expression

2022-10-16

Abstract excerpt

<h4>ABSTRACT</h4> Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent pubertal development and infertility, often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH patients identified 12 rare missense variants in POU6F2. POU6F2 encodes two distinct isoforms. In mouse, pituitary and gonads expressed both isoforms, but only isoform1 was...

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Literature Corpus work
61185261-a08d-5a74-b3e0-66d7a3bedb9d
DOI
10.1101/2022.10.12.511883
Open publication

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<i>POU6F2</i> mutation identified in humans with pubertal failure shifts isoform formation and alters GnRH transcript expressionDOI 10.1101/2022.10.12.511883
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