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English
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
scientific article published on 01 December 2002
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
title
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
main subject
cleft palate
1 reference
based on heuristic
inferred from title
author name string
M Bahuau
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
C Houdayer
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
M Tredano
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
V Soupre
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
R Couderc
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
M-P Vazquez
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
publication date
1 December 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
volume
62
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
issue
6
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
page(s)
470-473
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
cites work
Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620608.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620608.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene for lymphedema-distichiasis maps to 16q24.3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620608.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620608.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Truncating mutations in FOXC2 cause multiple lymphedema syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620608.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620608.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1034/J.1399-0004.2002.620608.X
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
PubMed ID
12485195
1 reference
stated in
Europe PubMed Central
PubMed ID
12485195
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12485195%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 December 2019
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