FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2521259095> ?p ?o ?g. }

• W2521259095 abstract "Fraser syndrome (FS MIM 219000) is a rare, heterogeneous congenital malformation disorder characterized by cryptophthalmos, syndactyly and urogenital defects. The entity is named after George Fraser who described two unrelated patients with the same congenital malformation disorder consisting of cryptophthalmos, ear anomalies, genital anomalies and syndactyly. More than 250 cases have thus far been reported in the literature. Robin Winter had speculated that FS is the human equivalent of the murine blebbing mutants in which mutations at five loci give the same phenotype as FS. Mutations in two human genes are known to cause FS and there are three further candidate genes. FRAS1, the first locus identified, encodes an Extracellular Matrix (ECM) protein whose domain structure suggests a structural role within the ECM as well as in cell signalling. There are several genes similar to FRAS1 in the human genome. These are called FREM1-3 (Fras-Related-Extracellular-Matrixl-3). In patients with FS, missense mutations have recently been identified in a second gene, FREM2. The other FREM genes have not been associated with FS as yet. Mutations in Grip! have been identified in eye blebbing (eb) mutants. To date, no GRIP1 mutations have been identified in FS patients. Clinical data and DNA samples were collected from 59 affected individuals from 25 consanguineous and 15 non-consanguineous families. Evaluation of the clinical findings in this group revealed a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract and anus, whereas mental retardation and cleft lip/ palate were less often observed than previously reported. Mutation analysis of the genes known or suspected to be involved in FS resulted in the identification of six FRAS1 mutations and two FREM2 mutations. Linkage analysis in consanguineous families indicated further evidence of linkage to FRAS1, FREM2, FREM1 and GRIP1. Genotype-phenotype analysis revealed that skull ossification defects, umbilical, urinary tract, and anorectal abnormalities were more frequently reported in patients with a FRAS1 mutation than in all other FS patients. Based on these results the existing diagnostic criteria were re evaluated and the definition of new diagnostic criteria for FS is suggested here along with a discussion of the findings." @default.
• W2521259095 created "2016-09-30" @default.
• W2521259095 creator A5044826437 @default.
• W2521259095 creator A5077809107 @default.
• W2521259095 date "2006-07-31" @default.
• W2521259095 modified "2023-09-24" @default.
• W2521259095 title "Clinical and molecular genetics of Fraser syndrome" @default.
• W2521259095 hasPublicationYear "2006" @default.
• W2521259095 type Work @default.
• W2521259095 sameAs 2521259095 @default.
• W2521259095 citedByCount "0" @default.
• W2521259095 crossrefType "dissertation" @default.
• W2521259095 hasAuthorship W2521259095A5044826437 @default.
• W2521259095 hasAuthorship W2521259095A5077809107 @default.
• W2521259095 hasConcept C104317684 @default.
• W2521259095 hasConcept C127716648 @default.
• W2521259095 hasConcept C2777202849 @default.
• W2521259095 hasConcept C29906990 @default.
• W2521259095 hasConcept C54355233 @default.
• W2521259095 hasConcept C69991583 @default.
• W2521259095 hasConcept C75563809 @default.
• W2521259095 hasConcept C84597430 @default.
• W2521259095 hasConcept C86803240 @default.
• W2521259095 hasConceptScore W2521259095C104317684 @default.
• W2521259095 hasConceptScore W2521259095C127716648 @default.
• W2521259095 hasConceptScore W2521259095C2777202849 @default.
• W2521259095 hasConceptScore W2521259095C29906990 @default.
• W2521259095 hasConceptScore W2521259095C54355233 @default.
• W2521259095 hasConceptScore W2521259095C69991583 @default.
• W2521259095 hasConceptScore W2521259095C75563809 @default.
• W2521259095 hasConceptScore W2521259095C84597430 @default.
• W2521259095 hasConceptScore W2521259095C86803240 @default.
• W2521259095 hasLocation W25212590951 @default.
• W2521259095 hasOpenAccess W2521259095 @default.
• W2521259095 hasPrimaryLocation W25212590951 @default.
• W2521259095 hasRelatedWork W1762567143 @default.
• W2521259095 hasRelatedWork W2066901660 @default.
• W2521259095 hasRelatedWork W2079783644 @default.
• W2521259095 hasRelatedWork W2081472664 @default.
• W2521259095 hasRelatedWork W2081829036 @default.
• W2521259095 hasRelatedWork W2127047585 @default.
• W2521259095 hasRelatedWork W2142236975 @default.
• W2521259095 hasRelatedWork W2296391532 @default.
• W2521259095 hasRelatedWork W2332487642 @default.
• W2521259095 hasRelatedWork W2335288385 @default.
• W2521259095 hasRelatedWork W2463792270 @default.
• W2521259095 hasRelatedWork W2765118358 @default.
• W2521259095 hasRelatedWork W2790391181 @default.
• W2521259095 hasRelatedWork W2792703742 @default.
• W2521259095 hasRelatedWork W2802466439 @default.
• W2521259095 hasRelatedWork W3031645137 @default.
• W2521259095 hasRelatedWork W3114668223 @default.
• W2521259095 hasRelatedWork W3173294906 @default.
• W2521259095 hasRelatedWork W657546117 @default.
• W2521259095 hasRelatedWork W895863423 @default.
• W2521259095 isParatext "false" @default.
• W2521259095 isRetracted "false" @default.
• W2521259095 magId "2521259095" @default.
• W2521259095 workType "dissertation" @default.