(Q45345152)

13 December 2017

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

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13 December 2017

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1

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13 December 2017

4

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13 December 2017

Gaudenz K

2

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13 December 2017

Zackai EH

3

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13 December 2017

Szabo J

5

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13 December 2017

Francomano CA

6

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13 December 2017

Muenke M

7

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13 December 2017

language of work or name

English

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publication date

1 October 1996

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13 December 2017

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13 December 2017

14

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13 December 2017

174-176

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13 December 2017

2

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https://scigraph.springernature.com/pub.10.1038/ng1096-174

13 December 2017

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cites work

FGFR2 mutations in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

Localization of craniosynostosis Adelaide type to 4p16.

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

The ins and outs of fibroblast growth factors

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1096-174

7 January 2021

Identifiers

DOI

10.1038/NG1096-174

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Dimensions Publication ID

13 December 2017

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1 reference