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Article

A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.

The Journal of clinical endocrinology and metabolism - 1 Mar 2007

Xu Ning, Qin Yu, Reindollar Richard H, Tho Sandra P T, McDonough Paul G, Layman Lawrence C

Abstract excerpt

CONTEXT: Kallmann syndrome (KS) consists of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia/hyposmia. Currently, the fibroblast growth factor receptor 1 (FGFR1) gene is the only known autosomal dominant cause of KS, which is also associated with synkinesia, midfacial defects, and dental agenesis. OBJECTIVE: Mutations in FGFR1 typically demonstrate reduced penetrance, variable expressivity, and until...

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Source

Identifiers

PMID: 17200176
DOI: 10.1210/jc.2006-1183

Genes

FGFR1
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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