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Article

Clinical genetics of Kallmann syndrome.

Annales d'endocrinologie - 1 May 2010

Dodé C, Hardelin J-P

Abstract excerpt

The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease (KAL1). Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an...

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Source

Identifiers

PMID: 20362962
DOI: 10.1016/j.ando.2010.02.005

Genes

CHD7
FGF8
FGFR1
PROK2
PROKR2

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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