(Q34289809)

1 August 2017

title

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

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1 August 2017

main subject

transmembrane protein

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author name string

Meyers GA

1

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1 August 2017

Orlow SJ

2

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1 August 2017

Munro IR

3

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1 August 2017

Przylepa KA

4

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1 August 2017

Jabs EW

5

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1 August 2017

language of work or name

English

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publication date

1 December 1995

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1 August 2017

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1 August 2017

volume

11

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1 August 2017

issue

4

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1 August 2017

page(s)

462-464

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Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

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%2FNG1295-462

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

FGFR2 mutations in Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Acanthosis nigricans: a cutaneous marker of tissue resistance to insulin.

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

A novel form of FGF receptor-3 using an alternative exon in the immunoglobulin domain III

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Signal transduction by receptors with tyrosine kinase activity

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-462

7 January 2021

Identifiers

DOI

10.1038/NG1295-462

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Dimensions Publication ID

1 August 2017

1033775020

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1 reference