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English
A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability
scientific article published on 01 January 2020
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
title
A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability
(English)
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
main subject
Bruck syndrome
1 reference
based on heuristic
inferred from title
author name string
Lindsey Luce
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
Michael Casale
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
Sean Waldron
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
publication date
1 January 2020
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
published in
The Ochsner journal
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
volume
20
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
page(s)
204-208
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
issue
2
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
cites work
Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Fractures in children with cerebral palsy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Bruck syndrome: congenital joint contractures with bone fragility
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Osteogenesis imperfecta with joint contractures: Bruck syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=7310181
retrieved
10 February 2021
Identifiers
DOI
10.31486/TOJ.18.0145
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
PMCID
7310181
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
PubMed ID
32612477
1 reference
stated in
Europe PubMed Central
PMCID
7310181
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32612477%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 July 2020
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