Please use this identifier to cite or link to this item:
https://hdl.handle.net/11499/7845
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Shaaban, S. | - |
dc.contributor.author | Düzcan, Füsun | - |
dc.contributor.author | Yildirim, C. | - |
dc.contributor.author | Chan, W.-M. | - |
dc.contributor.author | Andrews, C. | - |
dc.contributor.author | Akarsu, N.A. | - |
dc.contributor.author | Engle, E.C. | - |
dc.date.accessioned | 2019-08-16T12:32:45Z | |
dc.date.available | 2019-08-16T12:32:45Z | |
dc.date.issued | 2014 | - |
dc.identifier.issn | 0009-9163 | - |
dc.identifier.uri | https://hdl.handle.net/11499/7845 | - |
dc.identifier.uri | https://doi.org/10.1111/cge.12224 | - |
dc.description.abstract | Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently reported to cause recessive forms of distal arthrogryposis. This report expands on the molecular basis and the phenotypic spectrum of ECEL1-associated congenital contracture syndromes. © 2013 John Wiley & Sons A/S. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Blackwell Publishing Ltd | en_US |
dc.relation.ispartof | Clinical Genetics | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Arthrogryposis | en_US |
dc.subject | Camptodactyly | en_US |
dc.subject | Contractures | en_US |
dc.subject | Ophthalmoplegia | en_US |
dc.subject | endothelin converting enzyme | en_US |
dc.subject | ECEL1 protein, human | en_US |
dc.subject | metalloproteinase | en_US |
dc.subject | adult | en_US |
dc.subject | arthrogryposis | en_US |
dc.subject | article | en_US |
dc.subject | astigmatism | en_US |
dc.subject | camptodactyly | en_US |
dc.subject | child | en_US |
dc.subject | clinical article | en_US |
dc.subject | female | en_US |
dc.subject | flexion contracture | en_US |
dc.subject | gene sequence | en_US |
dc.subject | genetic analysis | en_US |
dc.subject | homozygosity | en_US |
dc.subject | human | en_US |
dc.subject | knee function | en_US |
dc.subject | male | en_US |
dc.subject | missense mutation | en_US |
dc.subject | ophthalmoplegia | en_US |
dc.subject | priority journal | en_US |
dc.subject | ptosis | en_US |
dc.subject | refraction error | en_US |
dc.subject | scoliosis | en_US |
dc.subject | consanguinity | en_US |
dc.subject | DNA sequence | en_US |
dc.subject | exome | en_US |
dc.subject | genetics | en_US |
dc.subject | genotype | en_US |
dc.subject | homozygote | en_US |
dc.subject | pathology | en_US |
dc.subject | pedigree | en_US |
dc.subject | phenotype | en_US |
dc.subject | Turkey | en_US |
dc.subject | Adult | en_US |
dc.subject | Consanguinity | en_US |
dc.subject | Exome | en_US |
dc.subject | Female | en_US |
dc.subject | Genotype | en_US |
dc.subject | Homozygote | en_US |
dc.subject | Humans | en_US |
dc.subject | Male | en_US |
dc.subject | Metalloendopeptidases | en_US |
dc.subject | Mutation, Missense | en_US |
dc.subject | Pedigree | en_US |
dc.subject | Phenotype | en_US |
dc.subject | Sequence Analysis, DNA | en_US |
dc.title | Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 85 | en_US |
dc.identifier.issue | 6 | en_US |
dc.identifier.startpage | 562 | |
dc.identifier.startpage | 562 | en_US |
dc.identifier.endpage | 567 | en_US |
dc.authorid | 0000-0002-3973-1404 | - |
dc.identifier.doi | 10.1111/cge.12224 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.pmid | 23808592 | en_US |
dc.identifier.scopus | 2-s2.0-84899484124 | en_US |
dc.identifier.wos | WOS:000334908000011 | en_US |
dc.identifier.scopusquality | Q1 | - |
dc.owner | Pamukkale University | - |
item.grantfulltext | open | - |
item.languageiso639-1 | en | - |
item.fulltext | With Fulltext | - |
item.openairetype | Article | - |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
crisitem.author.dept | 14.02. Internal Medicine | - |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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File | Size | Format | |
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nihms-528225.pdf | 723.84 kB | Adobe PDF | View/Open |
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