(Q28141579)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

congenital cataracts, facial dysmorphism, and neuropathy

11 December 2019

main subject

congenital disorder

0 references

developmental disorder

1 reference

based on heuristic

inferred from title

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

author name string

Angelicheva D

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

Turnev I

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

Chandler D

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

Thomas PK

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

Kalaydjieva L

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

language of work or name

English

0 references

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

11 December 2019

published in

1 reference

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11 December 2019

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

page(s)

560-566

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

Identifiers

DOI

10.1038/SJ.EJHG.5200319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10439962%20AND%20SRC:MED&resulttype=core&format=json