Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis (Q34421970)

2 August 2017

title

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis (English)

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Andrew Oliver Mungo Wilkie

2 August 2017

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8

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2 August 2017

M Muenke

7

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author name string

D M Moloney

1

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2 August 2017

S A Wall

2

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2 August 2017

G J Ashworth

3

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2 August 2017

M Oldridge

4

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2 August 2017

I A Glass

5

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2 August 2017

C A Francomano

6

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2 August 2017

language of work or name

English

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publication date

1 April 1997

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2 August 2017

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2 August 2017

volume

349

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2 August 2017

issue

9058

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2 August 2017

page(s)

1059-1062

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Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s)

2 August 2017

cites work

1 reference

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7 January 2021

Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly

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7 January 2021

Genetic study of nonsyndromic coronal craniosynostosis

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Genetic study of scaphocephaly

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A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

FGFR2 mutations in Pfeiffer syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

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7 January 2021

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

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7 January 2021

A family study of craniosynostosis, with probable recognition of a distinct syndrome.

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7 January 2021

Saethre-Chotzen syndrome

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7 January 2021

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

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7 January 2021

The 1993-94 Généthon human genetic linkage map

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7 January 2021

Exclusive paternal origin of new mutations in Apert syndrome

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7 January 2021

Recent human germ-line mutation: inferences from patients with hemophilia B.

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7 January 2021

Localization of craniosynostosis Adelaide type to 4p16.

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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/10.1016/S0140-6736(96)09082-4

7 January 2021

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(96)09082-4

7 January 2021

10.1016/S0140-6736(96)09082-4

Identifiers

DOI

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2 August 2017

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