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Article

Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

Nature clinical practice. Endocrinology & metabolism - 1 Mar 2006

Tsai Pei-San, Gill John C

Abstract excerpt

Kallmann syndrome (KS) is a disorder characterized by hypogonadotropic hypogonadism and anosmia. Although KS is genetically heterogeneous, only two causal genes have been identified to date. These include an X-linked gene that encodes anosmin 1 and an autosomal gene that encodes fibroblast growth factor receptor 1. Mutations in these two genes result in disorders that often include, but are not limited to, severe...

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Identifiers

PMID: 16932275
DOI: 10.1038/ncpendmet0119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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