An unusual FGFR1 mutation (fibroblast growth facto...[Cytogenet Cell Genet. 2000]

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1: Cytogenet Cell Genet. 2000;91(1-4):138-40. Links

An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.

Kress W, Petersen B, Collmann H, Grimm T.

Department of Human Genetics, University of Würzburg, Würzburg , Germany. wkress@biozentrum.uni-wuerzburg.de

Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the origin is unknown. Rare cases with autosomal dominant and recessive inheritance exist. Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found. Copyright 2001 S. Karger AG, Basel.

PMID: 11173846 [PubMed - indexed for MEDLINE]

Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2.
Am J Med Genet. 2002 Nov 22; 113(2):200-6.

[Am J Med Genet. 2002]
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Am J Hum Genet. 2002 Feb; 70(2):472-86. Epub 2002 Jan 4.

[Am J Hum Genet. 2002]
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
Am J Med Genet. 1998 Jul 7; 78(3):237-41.

[Am J Med Genet. 1998]
ReviewCraniosynostosis: genes and mechanisms.
Hum Mol Genet. 1997; 6(10):1647-56.

[Hum Mol Genet. 1997]
ReviewCraniosynostosis and related limb anomalies.
Novartis Found Symp. 2001; 232:122-33; discussion 133-43.

[Novartis Found Symp. 2001]
» See reviews... | » See all...

Cited by 1 PubMed Central article

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, et al. Am J Hum Genet. 2005 May; 76(5):729-49. Epub 2005 Mar 25.

[Am J Hum Genet. 2005]

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An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.

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