(Q57150825)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

non-immune hydrops fetalis

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

K Kalidas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

G Brice

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

V Murday

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

I Jeffrey

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

S Jeffery

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Sahar Mansour

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

F C Connell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

P S Mortimer

6

1 reference

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20 January 2020

publication date

1 February 2012

1 reference

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20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

191-197

1 reference

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20 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01731.X

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01731.X

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01731.X

Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01731.X

Severity of non-immune hydrops fetalis at birth continues to predict survival despite advances in perinatal care.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01731.X

Hydrops fetalis: a retrospective review of cases reported to a large national database and identification of risk factors associated with death

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01731.X

10.1111/J.1399-0004.2011.01731.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22239599%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference