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Article

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

Molecular and cellular endocrinology - 25 Jul 2006

Zenaty Delphine, Bretones Patricia, Lambe Cécile, Guemas Isabelle, David Michel, Léger Juliane, de Roux Nicolas

Abstract excerpt

Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms. The autosomal dominant form due to loss of function mutation in the fibroblast growth factor receptor 1 (FGFR1) accounts for about 10% of cases. We report here three paediatric cases of Kallmann syndrome with unusual phenotype in two...

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Source

Identifiers

PMID: 16757108
DOI: 10.1016/j.mce.2006.04.006

Genes

FGFR1

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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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