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Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic Failure.

Urology - 1 Oct 2018

Clavijo Raul I, Arora Himanshu, Gibbs Eric, Cohen Samuel, Griswold Anthony, Bakircioglu Emre, Bademci Guney, Tekin Mustafa, Ramasamy Ranjith

Abstract excerpt

In this case report we describe our investigation into the genetic cause of infertility due to idiopathic nonobstructive azoospermia in a consanguineous Turkish family. We extracted DNA from blood and applied whole exome sequencing on 4 infertile brothers in this family diagnosed with oligo- and azoospermia. Standard bioinformatics analysis pipelines were run including alignment to the reference genome, variant...

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PMID: 29966603
DOI: 10.1016/j.urology.2018.06.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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