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Article

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

Human mutation - 1 Jan 2005

Albuisson Juliette, Pêcheux Chistophe, Carel Jean-Claude, Lacombe Didier, Leheup Bruno, Lapuzina Pablo, Bouchard Philippe, Legius Eric, Matthijs Gert, Wasniewska Malgorzata, Delpech Marc, Young Jacques, Hardelin Jean-Pierre, Dodé Catherine

Abstract excerpt

Kallmann syndrome (KAL) combines hypogonadotropic hypogonadism and anosmia. Hypogonadism is due to Gonadotropin Releasing Hormone (GnRH) deficiency and anosmia is related to hypoplasia of the olfactory bulbs. Occasional symptoms include renal agenesis, bimanual synkinesia, cleft lip palate, dental agenesis. KAL is genetically heterogeneous and two genes have so far been identified, namely KAL1 (Xp22.3) and...

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Identifiers

PMID: 15605412
DOI: 10.1002/humu.9298

Genes

FGFR1

Variants

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).PMID 15605412Read ↗

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Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.Semantic proximity Read ↗

The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.Semantic proximity Read ↗

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.Semantic proximity Read ↗

[Current genetic issues and phenotypic variants in Kallmann syndrome].Semantic proximity Read ↗

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Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.Semantic proximity Read ↗

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