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Literature DB >> 11173846

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

W Kress¹, B Petersen, H Collmann, T Grimm.

Abstract

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.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2000 PMID： 11173846 DOI： 10.1159/000056834

Source DB: PubMed Journal: Cytogenet Cell Genet ISSN： 0301-0171

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Cited

17 in total

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2. Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment.

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3. Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Authors: Xiaoqian Ye; Audrey Guilmatre; Boris Reva; Inga Peter; Yann Heuzé; Joan T Richtsmeier; Deborah J Fox; Rhinda J Goedken; Ethylin Wang Jabs; Paul A Romitti
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Review 4. Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification.

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5. The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.

Authors: L A Lansdon; H V Bernabe; N Nidey; J Standley; M J Schnieders; J C Murray
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6. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Authors: Ningwu Huang; Amit V Pandey; Vishal Agrawal; William Reardon; Pablo D Lapunzina; David Mowat; Ethylin Wang Jabs; Guy Van Vliet; Joseph Sack; Christa E Flück; Walter L Miller
Journal: Am J Hum Genet Date: 2005-03-25 Impact factor: 11.025

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

1. Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis.

2. Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment.

3. Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Review 4. Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification.

5. The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.

6. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

7. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Review 8. Neurodevelopment of children with single suture craniosynostosis: a review.

Review 9. Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Review 10. The genetic basis of female reproductive disorders: etiology and clinical testing.