FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4284687078> ?p ?o ?g. }

• W4284687078 abstract "Abstract Background Waardenburg syndrome is an autosomal dominant disorder with varying degrees of sensorineural hearing loss as well as abnormal pigmentation in hair, skin, and iris. There are four types of Waardenburg syndrome (1–4) with different characteristics. Mutations in six genes have been identified to be associated with the various types. Herein, we describe a case of Waardenburg syndrome type 4 combined with open-angle glaucoma. Case presentation A 43-year-old Han Chinese man had undergone trabeculectomy due to progression of visual field impairment and unstable intraocular pressure in both eyes. Slit-lamp examination revealed diffuse iris hypopigmentation in the left eye and hypopigmentation of part of the iris in the right eye. Fundus examination showed red, sunset-like fundus due to a lack of pigmentation in the retinal pigment epithelium layer, diffuse loss of the nerve fiber layer, and an excavated optic nerve head with advanced-stage glaucoma. Imaging was performed using anterior segment optical coherence tomography to detect the iris configuration. In the heterochromic iris portion, the normal part of the iris showed a clear hyperreflective signal of the anterior border layer, while atrophy of the pigmented anterior border layer showed a hyporeflective area of the anterior surface resulting in reduced light absorption. Two mutations of the endothelin receptor type B gene were recognized in this study. The first (c.1111G>A on exon 7) leads to an amino acid change from glycine to serine at codon 371. Sanger verification revealed that this mutation is inherited from the mother. The other mutation (c.553G>A) leads to an amino acid change from valine to methionine at codon 185. Sanger verification showed that this mutation was inherited from the father. Conclusion Waardenburg syndrome shows a remarkable diversity in clinical presentation and morphology. This disease can also present with open-angle glaucoma. Sequencing analysis revealed two heterozygous mutations in the EDNRB gene in this patient, inherited from his mother and father, respectively. These two sites constitute a compound heterozygous variation." @default.
• W4284687078 created "2022-07-08" @default.
• W4284687078 creator A5009127041 @default.
• W4284687078 creator A5026906414 @default.
• W4284687078 creator A5082283868 @default.
• W4284687078 date "2022-07-06" @default.
• W4284687078 modified "2023-09-25" @default.
• W4284687078 title "Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report" @default.
• W4284687078 cites W135824410 @default.
• W4284687078 cites W1559786883 @default.
• W4284687078 cites W1567829440 @default.
• W4284687078 cites W1573693811 @default.
• W4284687078 cites W1576876710 @default.
• W4284687078 cites W1795781477 @default.
• W4284687078 cites W1966566830 @default.
• W4284687078 cites W1983536438 @default.
• W4284687078 cites W1997641278 @default.
• W4284687078 cites W2012440149 @default.
• W4284687078 cites W2018483518 @default.
• W4284687078 cites W2029602518 @default.
• W4284687078 cites W2035079223 @default.
• W4284687078 cites W2049145935 @default.
• W4284687078 cites W2062423918 @default.
• W4284687078 cites W2081215512 @default.
• W4284687078 cites W2081462173 @default.
• W4284687078 cites W2087447340 @default.
• W4284687078 cites W2098342899 @default.
• W4284687078 cites W2106966722 @default.
• W4284687078 cites W2134254169 @default.
• W4284687078 cites W2143051878 @default.
• W4284687078 cites W2152641758 @default.
• W4284687078 cites W2164927488 @default.
• W4284687078 cites W2167522637 @default.
• W4284687078 cites W2269649051 @default.
• W4284687078 cites W2515428259 @default.
• W4284687078 cites W2603508528 @default.
• W4284687078 cites W2801082739 @default.
• W4284687078 cites W2948182573 @default.
• W4284687078 cites W3004834490 @default.
• W4284687078 cites W3021159460 @default.
• W4284687078 cites W3044340469 @default.
• W4284687078 cites W3088887155 @default.
• W4284687078 cites W3108747522 @default.
• W4284687078 cites W3171991466 @default.
• W4284687078 cites W4246639364 @default.
• W4284687078 cites W635600514 @default.
• W4284687078 cites W1964914909 @default.
• W4284687078 cites W1995516308 @default.
• W4284687078 cites W2048779681 @default.
• W4284687078 doi "https://doi.org/10.1186/s13256-022-03460-1" @default.
• W4284687078 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35790984" @default.
• W4284687078 hasPublicationYear "2022" @default.
• W4284687078 type Work @default.
• W4284687078 citedByCount "0" @default.
• W4284687078 crossrefType "journal-article" @default.
• W4284687078 hasAuthorship W4284687078A5009127041 @default.
• W4284687078 hasAuthorship W4284687078A5026906414 @default.
• W4284687078 hasAuthorship W4284687078A5082283868 @default.
• W4284687078 hasBestOaLocation W42846870781 @default.
• W4284687078 hasConcept C104317684 @default.
• W4284687078 hasConcept C105702510 @default.
• W4284687078 hasConcept C118487528 @default.
• W4284687078 hasConcept C127716648 @default.
• W4284687078 hasConcept C184297639 @default.
• W4284687078 hasConcept C2776391266 @default.
• W4284687078 hasConcept C2777259899 @default.
• W4284687078 hasConcept C2778527774 @default.
• W4284687078 hasConcept C2779503344 @default.
• W4284687078 hasConcept C2780592520 @default.
• W4284687078 hasConcept C2991803831 @default.
• W4284687078 hasConcept C38652104 @default.
• W4284687078 hasConcept C41008148 @default.
• W4284687078 hasConcept C54355233 @default.
• W4284687078 hasConcept C71924100 @default.
• W4284687078 hasConcept C86803240 @default.
• W4284687078 hasConceptScore W4284687078C104317684 @default.
• W4284687078 hasConceptScore W4284687078C105702510 @default.
• W4284687078 hasConceptScore W4284687078C118487528 @default.
• W4284687078 hasConceptScore W4284687078C127716648 @default.
• W4284687078 hasConceptScore W4284687078C184297639 @default.
• W4284687078 hasConceptScore W4284687078C2776391266 @default.
• W4284687078 hasConceptScore W4284687078C2777259899 @default.
• W4284687078 hasConceptScore W4284687078C2778527774 @default.
• W4284687078 hasConceptScore W4284687078C2779503344 @default.
• W4284687078 hasConceptScore W4284687078C2780592520 @default.
• W4284687078 hasConceptScore W4284687078C2991803831 @default.
• W4284687078 hasConceptScore W4284687078C38652104 @default.
• W4284687078 hasConceptScore W4284687078C41008148 @default.
• W4284687078 hasConceptScore W4284687078C54355233 @default.
• W4284687078 hasConceptScore W4284687078C71924100 @default.
• W4284687078 hasConceptScore W4284687078C86803240 @default.
• W4284687078 hasFunder F4320315254 @default.
• W4284687078 hasIssue "1" @default.
• W4284687078 hasLocation W42846870781 @default.
• W4284687078 hasLocation W42846870782 @default.
• W4284687078 hasLocation W42846870783 @default.
• W4284687078 hasOpenAccess W4284687078 @default.
• W4284687078 hasPrimaryLocation W42846870781 @default.
• W4284687078 hasRelatedWork W196552534 @default.
• W4284687078 hasRelatedWork W2396777714 @default.

• next