Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family (Q28204015)

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5 November 2019

title

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family (English)

1 reference

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5 November 2019

7

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5 November 2019

author name string

B Ford

1

1 reference

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5 November 2019

R Rupps

2

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5 November 2019

D Lirenman

3

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5 November 2019

M I Van Allen

4

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5 November 2019

D Farquharson

5

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5 November 2019

C Lyons

6

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5 November 2019

language of work or name

English

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publication date

1 March 2001

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American Journal of Medical Genetics Part A

5 November 2019

published in

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5 November 2019

volume

99

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5 November 2019

issue

2

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5 November 2019

page(s)

137-141

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Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) /- mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

Mutation of PAX2 in two siblings with renal-coloboma syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

Genomic structure of the human PAX2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

10.1002/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F

21 January 2018

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

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5 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017