(Q56385245)

English

FGFR2 mutations in Pfeiffer syndrome

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scholarly article

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FGFR2 mutations in Pfeiffer syndrome (English)

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Pfeiffer syndrome

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author name string

E Lajeunie

1

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H W Ma

2

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J Bonaventure

3

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A Munnich

4

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M Le Merrer

5

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D Renier

6

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language of work or name

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publication date

February 1995

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Nature Genetics

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9

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2

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108

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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%2FNG0295-108

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-108

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-108

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-108

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-108

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-108

21 January 2018

Dominant erbliche Akrocephalosyndaktylie

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-108

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-108

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/NG0295-108

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