(Q56385245)

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FGFR2 mutations in Pfeiffer syndrome

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FGFR2 mutations in Pfeiffer syndrome (English)

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1 reference

E Lajeunie

1

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H W Ma

series ordinal

2

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J Bonaventure

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3

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A Munnich

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4

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M Le Merrer

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5

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D Renier

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6

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language of work or name

English

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publication date

February 1995

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published in

Nature Genetics

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volume

9

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issue

2

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page(s)

108

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cites work

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

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reference URL

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

retrieved

21 January 2018

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

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stated in

Crossref

reference URL

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

retrieved

21 January 2018

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

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Crossref

reference URL

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

retrieved

21 January 2018

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

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stated in

Crossref

reference URL

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

retrieved

21 January 2018

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

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Crossref

reference URL

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

retrieved

21 January 2018

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

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stated in

Crossref

reference URL

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

retrieved

21 January 2018

Dominant erbliche Akrocephalosyndaktylie

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stated in

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reference URL

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

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

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

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stated in

Crossref

reference URL

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

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG0295-108

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PubMed publication ID

7719333

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(Q56385245)

FGFR2 mutations in Pfeiffer syndrome

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