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Article

Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism.

Genetics and molecular research : GMR - 19 Dec 2012

Hu S C, Ye J, Fathi A K, Fu X, Huang S, Ning Q, Luo X P

Abstract excerpt

We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism. These patients were recruited from the Pediatrics section of Tongji Hospital, Tongji Medical College, in Wuhan, China. None...

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Source

Identifiers

PMID: 23096908
DOI: 10.4238/2012.October.9.6

Genes

PIN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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