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Article

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.

Fertility and sterility - 1 Jul 2016

Ben Hadj Hmida Imen, Mougou-Zerelli Soumaya, Hadded Anis, Dimassi Sarra, Kammoun Molka, Bignon-Topalovic Joelle, Bibi Mohamed, Saad Ali, Bashamboo Anu, McElreavey Ken

Abstract excerpt

OBJECTIVE: To determine the genetic cause of 46,XY primary amenorrhea in three 46,XY girls. DESIGN: Whole exome sequencing. SETTING: University cytogenetics center. PATIENT(S): Three patients with unexplained 46,XY primary amenorrhea were included in the study. INTERVENTION(S): Potentially pathogenic variants were confirmed by Sanger sequencing, and familial segregation was determined where parents' DNA was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27016457
DOI: 10.1016/j.fertnstert.2016.03.008

Genes

LHCGR

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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