(Q24679687)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

case report

0 references

title

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

main subject

acrocallosal syndrome

1 reference

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

E Elson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

R Perveen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

D Donnai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

S Wall

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

language of work or name

English

0 references

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

14 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

804-806

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Identifiers

DOI

10.1136/JMG.39.11.804

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

PubMed publication ID

12414818

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414818%20AND%20SRC:MED&resulttype=core&format=json