Article

Whole-exome sequencing identified compound heterozygous variants in DNAH5 in a Chinese pedigree with idiopathic hypogonadotropic hypogonadism

2022-06-02

Abstract excerpt

<h4>Purpose: </h4> This study was designed to identify the underlying molecular genetic cause of idiopathic hypogonadotropic hypogonadism (IHH) in a nonconsanguineous Chinese family. <h4>Methods: </h4>: All the family members underwent medical history evaluation, physical examination, and laboratory studies. Whole-exome sequencing and RNA sequencing was performed on 2 affected siblings and unaffected parents. All...

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Literature Corpus work: 6aaaf9be-23ad-51fe-a2d5-d6874459a358
DOI: 10.21203/rs.3.rs-1662221/v1

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