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Article

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.

Journal of clinical research in pediatric endocrinology - 5 Jun 2016

Kotan Leman Damla, Cooper Charlton, Darcan Şükran, Carr Ian M, Özen Samim, Yan Yi, Hamedani Mohammad K, Gürbüz Fatih, Mengen Eda, Turan İhsan, Ulubay Ayça, Akkuş Gamze, Yüksel Bilgin, Topaloğlu A Kemal, Leygue Etienne

Abstract excerpt

OBJECTIVE: What initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be identified by studying a cohort of idiopathic hypogonadotropic hypogonadism (IHH). METHODS: A cohort of IHH cases was studied based on autozygosity mapping coupled with whole exome sequencing. RESULTS: Our studies revealed three independent...

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Source

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Identifiers

PMID: 27086651
DOI: 10.4274/jcrpe.3248
PMCID: PMC5096466

Genes

SRA1
IHH

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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