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Article

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

Fertility and sterility - 1 Nov 2015

Gonçalves Catarina, Bastos Margarida, Pignatelli Duarte, Borges Teresa, Aragüés José M, Fonseca Fernando, Pereira Bernardo D, Socorro Sílvia, Lemos Manuel C

Abstract excerpt

OBJECTIVE: To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH). DESIGN: Cross-sectional study. SETTING: Multicentric. PATIENT(S): Fifty unrelated patients with IHH (21 with Kallmann syndrome and 29 with normosmic IHH). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Patients...

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Source

Identifiers

PMID: 26277103
DOI: 10.1016/j.fertnstert.2015.07.1142

Genes

FGFR1
IHH
CHD7
PROKR2

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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