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Article

FGFR1 mutations in Kallmann syndrome.

Frontiers of hormone research - 1 Jan 2010

Villanueva C, de Roux N

Abstract excerpt

Kallmann syndrome (KS) is a heterogeneous genetic disorder that associates variable gonadotropin-releasing hormone (GnRH) deficiency with anosmia and, sometimes, other non-reproductive clinical features. X-linked recessive, as well as autosomal recessive and dominant modes of transmission have been described. The first KS-related gene to be described (KAL1) was in the X-linked form. The second gene (KAL2) was...

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Source

Identifiers

PMID: 20389085
DOI: 10.1159/000312693

Genes

FGFR1
FGF8

Provenance

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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