(Q58612611)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

6

1 reference

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7 January 2020

author name string

Filipe de Medeiros

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Lars Hansen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Evete Mawlad

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Hans Eiberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Camilla Asklund

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Linda P Jakobsen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

language of work or name

English

0 references

publication date

1 June 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

7 January 2020

published in

1 reference

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7 January 2020

volume

146A

1 reference

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7 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

1605-1608

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Identifiers

DOI

10.1002/AJMG.A.32257

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18478600%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference