Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. (Q36965768)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989383%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989383%20AND%20SRC:MED&resulttype=core&format=json

anterior segment mesenchymal dysgenesis

26 December 2019

main subject

0 references

author name string

Kim M Summers

1

1 reference

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26 December 2019

Stephen J Withers

2

1 reference

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26 December 2019

Glen A Gole

3

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26 December 2019

Sara Piras

4

1 reference

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26 December 2019

Peter J Taylor

5

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26 December 2019

publication date

5 November 2008

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26 December 2019

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26 December 2019

volume

14

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26 December 2019

page(s)

2010-2015

1 reference

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Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

26 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

The PITX3 gene in posterior polar congenital cataract in Australia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Posterior polar cataract: genetic analysis of a large family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

A mutation in the RIEG1 gene associated with Peters' anomaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Further support of the role of CYP1B1 in patients with Peters anomaly.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

Autosomal dominant cataracts and Peters anomaly in a large Australian family.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579936

The genetic background of anticipation

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18989383

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

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26 December 2019

PubMed publication ID

18989383

1 reference