(Q54969706)

14 June 2018

title

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. (English)

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14 June 2018

1

Anne Slavotinek

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14 June 2018

author name string

Howard Crawford

2

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14 June 2018

Mahin Golabi

3

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14 June 2018

Cathy Tao

4

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14 June 2018

Hazel Perry

5

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14 June 2018

Sneha Oberoi

6

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14 June 2018

Karin Vargervik

7

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14 June 2018

Michael Friez

8

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14 June 2018

language of work or name

English

0 references

publication date

1 August 2009

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14 June 2018

American Journal of Medical Genetics

published in

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14 June 2018

volume

149A

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14 June 2018

issue

8

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14 June 2018

page(s)

1814-1817

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14 June 2018

The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

Beare-Stevenson cutis gyrata syndrome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785435

13 August 2018

Identifiers

DOI

10.1002/AJMG.A.32947

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14 June 2018

PMC publication ID

2785435

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14 June 2018

PubMed publication ID

19610084

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14 June 2018