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Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Author

Gary Bellus

Lorne Clarke

Published in: Nature Genetics

Date of publication: October 1, 1996

Language: English

Main subject: craniosynostosis

Bibliographic databases:

Cites articles 24

Date

Title

Authors

February 1, 1993

Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis
February 1, 1993

Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
July 1, 1994

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
September 1, 1994

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

, ,
December 1, 1994

Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity
November 1994

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
August 1, 1994

The ins and outs of fibroblast growth factors
February 1995

FGFR2 mutations in Pfeiffer syndrome
February 1995

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
February 1, 1995

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
March 1, 1995

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

,
July 1, 1995

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
November 1, 1995

Constitutive Activation of Fibroblast Growth Factor Receptor-2 by a Point Mutation Associated with Crouzon Syndrome
March 1995

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome
March 1995

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
April 1, 1995

Localization of craniosynostosis Adelaide type to 4p16.
December 1, 1995

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
November 1, 1995

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
June 1, 1996

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
April 1, 1996

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.
March 22, 1996

Fibroblast growth factor receptor 3 is a negative regulator of bone growth
April 1, 1996

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

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May 3, 1996

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p

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February 1, 1996

Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia

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