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Article

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.

Advances in medical sciences - 1 Jan 2012

Jarzabek K, Wolczynski S, Lesniewicz R, Plessis G, Kottler M L

Abstract excerpt

PURPOSE: Loss-of-function mutations in FGFR1 have been identified in approximately 10% of the Kallmann syndrome (KS) patients. Previous reports have focused mainly on olfactory, reproductive, and some other features such as cleft lip/palate and dental agenesis. Given the ubiquitous expression of FGFR1 during development, other abnormal phenotypes might, however, have been overlooked in these patients. Here, we...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 1

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Source

Identifiers

PMID: 23154428
DOI: 10.2478/v10039-012-0036-4

Genes

FGFR1

Provenance

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.

Related research

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Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.PMID 23154428Read ↗

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.Semantic proximity Read ↗

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A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.Semantic proximity Read ↗

Novel insights in FGFR1 regulation: lessons from Kallmann syndromeSemantic proximity Read ↗

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