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Article

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.

Human mutation - 1 Jan 2007

Dodé Catherine, Fouveaut Corinne, Mortier Geert, Janssens Sandra, Bertherat Jérôme, Mahoudeau Jacques, Kottler Marie-Laure, Chabrolle Christine, Gancel Antoine, François Inge, Devriendt Koen, Wolczynski Slawomir, Pugeat Michel, Pineiro-Garcia Alfons, Murat Arnaud, Bouchard Philippe, Young Jacques, Delpech Marc, Hardelin Jean-Pierre

Abstract excerpt

In a new cohort of 141 unrelated patients affected by Kallmann syndrome we identified FGFR1 sequence variants in 17 patients, all in the heterozygous state. The fifteen novel variants consist of 10 missense (p.N77K, p.C101F, p.R250W, p.G270D, p.P283R, p.S332C, p.H621R, p.S685F, p.I693F, p.R822C),...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17154279
DOI: 10.1002/humu.9470

Genes

FGFR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17154279-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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