Clinical utility gene card for: Axenfeld-Rieger syndrome. (Q41896882)

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15 February 2020

title

Clinical utility gene card for: Axenfeld-Rieger syndrome (English)

1 reference

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15 February 2020

2

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15 February 2020

Zeynep Tumer

series ordinal

4

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15 February 2020

author name string

Nicole Weisschuh

series ordinal

1

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15 February 2020

Bernd Wissinger

series ordinal

3

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15 February 2020

publication date

13 October 2010

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European Journal of Human Genetics

15 February 2020

published in

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volume

19

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15 February 2020

issue

3

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15 February 2020

page(s)

274-275

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Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061995

Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061995

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061995

A second locus for Rieger syndrome maps to chromosome 13q14

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061995

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061995

The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061995

A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061995

PITs and FOXes in ocular genetics: the Cogan lecture

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061995

18 August 2018

Identifiers

DOI

10.1038/EJHG.2010.163

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Dimensions Publication ID

15 February 2020

0 references

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15 February 2020

PubMed publication ID

20940740

1 reference