(Q28300015)

1

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L J Pulleyn

2

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W Reardon

3

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R Hayward

5

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B Jones

6

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S Malcolm

7

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R M Winter

8

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M Oldridge

9

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S F Slaney

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

10

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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)

173-6

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cites work

1 reference

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

21 April 2017

1 reference

The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain

21 April 2017

1 reference

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

21 January 2018

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Cloverleaf skull associated with Pfeiffer syndrome: pathology and management

1 reference

7 January 2021

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

1 reference

7 January 2021

Pitfalls of genetic counselling in Pfeiffer's syndrome

1 reference

7 January 2021

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

1 reference

7 January 2021

Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

1 reference

7 January 2021

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

1 reference

7 January 2021

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

7 January 2021