(Q43923148)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11903230%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11903230%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference

1 reference

1 reference

3

1 reference

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8 December 2019

John Mcgrath

11

1 reference

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8 December 2019

author name string

A P South

1

1 reference

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8 December 2019

G H S Ashton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11903230%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

I H Ellis

4

1 reference

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8 December 2019

O Bleck

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11903230%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

T Hamada

6

1 reference

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8 December 2019

G Mannion

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11903230%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

V Wessagowit

8

1 reference

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8 December 2019

T Hashimoto

9

1 reference

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8 December 2019

R A J Eady

10

1 reference

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8 December 2019

language of work or name

English

0 references

publication date

1 February 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11903230%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

8 December 2019

published in

1 reference

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8 December 2019

volume

146

1 reference

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8 December 2019

issue

2

1 reference

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8 December 2019

page(s)

216-220

1 reference

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Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

P63 and P73: P53 mimics, menaces and more

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

IARC Database of p53 gene mutations in human tumors and cell lines: updated compilation, revised formats and new visualisation tools

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

Role of the newer p53 family proteins in malignancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2002.04638.X

10.1046/J.1365-2133.2002.04638.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11903230%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference