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Article

A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.

Gene - 20 Jul 2017

Luo Hunjin, Zheng Ruizhi, Zhao Yaguang, Wu Jiayu, Li Jie, Jiang Fang, Chen Dan-Na, Zhou Xiao-Tao, Li Jia-Da

Abstract excerpt

Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia. Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, accounts for approximately 10% of total patients. FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect. In...

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Source

Identifiers

PMID: 28411082
DOI: 10.1016/j.gene.2017.04.017

Genes

FGFR1
IHH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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