(Q46087914)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23550541%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23550541%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

2

1 reference

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27 February 2020

Kristiana Gordon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23550541%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

G Brice

1

1 reference

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27 February 2020

S Jeffery

3

1 reference

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27 February 2020

P S Mortimer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23550541%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

S Mansour

6

1 reference

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27 February 2020

language of work or name

1 reference

26 April 2013

1 reference

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27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23550541%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

84

1 reference

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27 February 2020

issue

4

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27 February 2020

page(s)

378-381

1 reference

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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

27 February 2020

cites work

1 reference

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

21 January 2018

1 reference

Specific motifs in the external loops of connexin proteins can determine gap junction formation between chick heart myocytes.

21 January 2018

1 reference

GJC2 missense mutations cause human lymphedema

21 January 2018

1 reference

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

21 January 2018

1 reference

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

21 January 2018

1 reference

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

21 January 2018

1 reference

Roles for alpha 1 connexin in morphogenesis of chick embryos revealed using a novel antisense approach.

21 January 2018

1 reference

Connexin37 and Connexin43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothorax

21 January 2018

1 reference

Estimating the population burden of lymphedema

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12158

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23550541%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

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