Matches in SemOpenAlex for { <https://semopenalex.org/work/W3120426000> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W3120426000 endingPage "e22902" @default.
- W3120426000 startingPage "e22902" @default.
- W3120426000 abstract "Warburg Micro syndrome is a rare, autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and genital systems. This case report describes a novel mutation in the RAB3GAP1 gene associated with Warburg Micro syndrome.A 6-month-old female infant with bilateral congenital cataracts and developmental delay was referred to our department for further assessment. She presented with facial dysmorphic features, including a prominent forehead, microphthalmia, wide nasal bridge, relatively narrow mouth, large anteverted ears, and micrognathia.The patient was diagnosed with Warburg Micro syndrome based on clinical manifestations, as well as a novel homozygous mutation in RAB3GAP1: c.75-2A>C. Both parents were identified as heterozygotic carriers of this mutation.Bilateral cataract extraction and anterior vitrectomy were performed at age 6 months, followed by physical rehabilitation. Convex lenses were used to protect the eyes postoperatively until intraocular lens implantation.Although the patient received physical rehabilitation, she suffered global developmental delay.The c.75-2A>C mutation in RAB3GAP1 expands the spectrum of known mutations in this gene, and it may be associated with Warburg Micro syndrome. Genetic counselors may wish to take this finding into consideration, especially given the poor prognosis associated with the disease." @default.
- W3120426000 created "2021-01-18" @default.
- W3120426000 creator A5001112185 @default.
- W3120426000 creator A5022646640 @default.
- W3120426000 creator A5037317706 @default.
- W3120426000 date "2021-01-15" @default.
- W3120426000 modified "2023-09-26" @default.
- W3120426000 title "A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome" @default.
- W3120426000 cites W1968742788 @default.
- W3120426000 cites W1980900150 @default.
- W3120426000 cites W1997243968 @default.
- W3120426000 cites W2023105046 @default.
- W3120426000 cites W2028073492 @default.
- W3120426000 cites W2030128920 @default.
- W3120426000 cites W2039096140 @default.
- W3120426000 cites W2045659151 @default.
- W3120426000 cites W2091285769 @default.
- W3120426000 cites W2121755100 @default.
- W3120426000 cites W2126660909 @default.
- W3120426000 cites W2146647216 @default.
- W3120426000 cites W2154309656 @default.
- W3120426000 doi "https://doi.org/10.1097/md.0000000000022902" @default.
- W3120426000 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7808449" @default.
- W3120426000 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33466118" @default.
- W3120426000 hasPublicationYear "2021" @default.
- W3120426000 type Work @default.
- W3120426000 sameAs 3120426000 @default.
- W3120426000 citedByCount "0" @default.
- W3120426000 crossrefType "journal-article" @default.
- W3120426000 hasAuthorship W3120426000A5001112185 @default.
- W3120426000 hasAuthorship W3120426000A5022646640 @default.
- W3120426000 hasAuthorship W3120426000A5037317706 @default.
- W3120426000 hasBestOaLocation W31204260001 @default.
- W3120426000 hasConcept C104317684 @default.
- W3120426000 hasConcept C127716648 @default.
- W3120426000 hasConcept C187212893 @default.
- W3120426000 hasConcept C2778085061 @default.
- W3120426000 hasConcept C2779674439 @default.
- W3120426000 hasConcept C2994225774 @default.
- W3120426000 hasConcept C501734568 @default.
- W3120426000 hasConcept C54355233 @default.
- W3120426000 hasConcept C71924100 @default.
- W3120426000 hasConcept C86803240 @default.
- W3120426000 hasConceptScore W3120426000C104317684 @default.
- W3120426000 hasConceptScore W3120426000C127716648 @default.
- W3120426000 hasConceptScore W3120426000C187212893 @default.
- W3120426000 hasConceptScore W3120426000C2778085061 @default.
- W3120426000 hasConceptScore W3120426000C2779674439 @default.
- W3120426000 hasConceptScore W3120426000C2994225774 @default.
- W3120426000 hasConceptScore W3120426000C501734568 @default.
- W3120426000 hasConceptScore W3120426000C54355233 @default.
- W3120426000 hasConceptScore W3120426000C71924100 @default.
- W3120426000 hasConceptScore W3120426000C86803240 @default.
- W3120426000 hasIssue "2" @default.
- W3120426000 hasLocation W31204260001 @default.
- W3120426000 hasLocation W31204260002 @default.
- W3120426000 hasLocation W31204260003 @default.
- W3120426000 hasLocation W31204260004 @default.
- W3120426000 hasOpenAccess W3120426000 @default.
- W3120426000 hasPrimaryLocation W31204260001 @default.
- W3120426000 hasRelatedWork W2069292477 @default.
- W3120426000 hasRelatedWork W2147438501 @default.
- W3120426000 hasRelatedWork W2353510567 @default.
- W3120426000 hasRelatedWork W2382362179 @default.
- W3120426000 hasRelatedWork W2403739478 @default.
- W3120426000 hasRelatedWork W2538525323 @default.
- W3120426000 hasRelatedWork W2773838902 @default.
- W3120426000 hasRelatedWork W3029202579 @default.
- W3120426000 hasRelatedWork W3120426000 @default.
- W3120426000 hasRelatedWork W4321787926 @default.
- W3120426000 hasVolume "100" @default.
- W3120426000 isParatext "false" @default.
- W3120426000 isRetracted "false" @default.
- W3120426000 magId "3120426000" @default.
- W3120426000 workType "article" @default.