FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3047486716> ?p ?o ?g. }

• W3047486716 endingPage "2383" @default.
• W3047486716 startingPage "2377" @default.
• W3047486716 abstract "Abstract Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5‐year‐old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia. We also documented progressive atrophy of the cerebellar vermis, that appeared not before the age of 7. The whole‐exome sequencing of the trio identified a novel homozygous variant c.1057_1058delGCinsCA (p.Ala353His) in the MBOAT7 gene. The variant is considered to be likely pathogenic, since it is absent from population database and it lies in a highly conserved amino acid residue. This disorder has a neurometabolic pathogenesis, implicating a phospholipid remodeling abnormalities. A brain hydrogen‐magnetic resonance spectroscopy (H‐MRS) examination in our patient disclosed a peculiar neurometabolic profile in the cerebellar hemispheric region. This new finding could address the clinical suspicion of MBOAT7‐ related disorder, among the wide range of genetic conditions associated with ID and cerebellar atrophy. Moreover, the documented progression of cerebellar atrophy and the worsening of the disease only after some years open to the possibility of a therapeutic window after birth." @default.
• W3047486716 created "2020-08-10" @default.
• W3047486716 creator A5000518815 @default.
• W3047486716 creator A5007378482 @default.
• W3047486716 creator A5012346614 @default.
• W3047486716 creator A5015005805 @default.
• W3047486716 creator A5018488973 @default.
• W3047486716 creator A5042500656 @default.
• W3047486716 creator A5042991034 @default.
• W3047486716 creator A5051666190 @default.
• W3047486716 creator A5057895486 @default.
• W3047486716 creator A5079909386 @default.
• W3047486716 creator A5087765400 @default.
• W3047486716 date "2020-08-03" @default.
• W3047486716 modified "2023-09-25" @default.
• W3047486716 title "A patient with novel <i>MBOAT7</i> variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile" @default.
• W3047486716 cites W1888696252 @default.
• W3047486716 cites W2051978340 @default.
• W3047486716 cites W2091317173 @default.
• W3047486716 cites W2099292814 @default.
• W3047486716 cites W2149476546 @default.
• W3047486716 cites W2163221665 @default.
• W3047486716 cites W2171062663 @default.
• W3047486716 cites W2412072325 @default.
• W3047486716 cites W2520538943 @default.
• W3047486716 cites W2748554529 @default.
• W3047486716 cites W2781756583 @default.
• W3047486716 cites W2888689224 @default.
• W3047486716 cites W2912498226 @default.
• W3047486716 cites W2932220397 @default.
• W3047486716 cites W2950600723 @default.
• W3047486716 cites W2958067187 @default.
• W3047486716 cites W2995849590 @default.
• W3047486716 doi "https://doi.org/10.1002/ajmg.a.61773" @default.
• W3047486716 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32744787" @default.
• W3047486716 hasPublicationYear "2020" @default.
• W3047486716 type Work @default.
• W3047486716 sameAs 3047486716 @default.
• W3047486716 citedByCount "7" @default.
• W3047486716 countsByYear W30474867162020 @default.
• W3047486716 countsByYear W30474867162021 @default.
• W3047486716 countsByYear W30474867162022 @default.
• W3047486716 countsByYear W30474867162023 @default.
• W3047486716 crossrefType "journal-article" @default.
• W3047486716 hasAuthorship W3047486716A5000518815 @default.
• W3047486716 hasAuthorship W3047486716A5007378482 @default.
• W3047486716 hasAuthorship W3047486716A5012346614 @default.
• W3047486716 hasAuthorship W3047486716A5015005805 @default.
• W3047486716 hasAuthorship W3047486716A5018488973 @default.
• W3047486716 hasAuthorship W3047486716A5042500656 @default.
• W3047486716 hasAuthorship W3047486716A5042991034 @default.
• W3047486716 hasAuthorship W3047486716A5051666190 @default.
• W3047486716 hasAuthorship W3047486716A5057895486 @default.
• W3047486716 hasAuthorship W3047486716A5079909386 @default.
• W3047486716 hasAuthorship W3047486716A5087765400 @default.
• W3047486716 hasConcept C104317684 @default.
• W3047486716 hasConcept C118552586 @default.
• W3047486716 hasConcept C126322002 @default.
• W3047486716 hasConcept C127716648 @default.
• W3047486716 hasConcept C142724271 @default.
• W3047486716 hasConcept C187212893 @default.
• W3047486716 hasConcept C2776395126 @default.
• W3047486716 hasConcept C2779652256 @default.
• W3047486716 hasConcept C2779674439 @default.
• W3047486716 hasConcept C2780168142 @default.
• W3047486716 hasConcept C2781083543 @default.
• W3047486716 hasConcept C2781172350 @default.
• W3047486716 hasConcept C2908647359 @default.
• W3047486716 hasConcept C54355233 @default.
• W3047486716 hasConcept C551499885 @default.
• W3047486716 hasConcept C71924100 @default.
• W3047486716 hasConcept C86803240 @default.
• W3047486716 hasConcept C99454951 @default.
• W3047486716 hasConceptScore W3047486716C104317684 @default.
• W3047486716 hasConceptScore W3047486716C118552586 @default.
• W3047486716 hasConceptScore W3047486716C126322002 @default.
• W3047486716 hasConceptScore W3047486716C127716648 @default.
• W3047486716 hasConceptScore W3047486716C142724271 @default.
• W3047486716 hasConceptScore W3047486716C187212893 @default.
• W3047486716 hasConceptScore W3047486716C2776395126 @default.
• W3047486716 hasConceptScore W3047486716C2779652256 @default.
• W3047486716 hasConceptScore W3047486716C2779674439 @default.
• W3047486716 hasConceptScore W3047486716C2780168142 @default.
• W3047486716 hasConceptScore W3047486716C2781083543 @default.
• W3047486716 hasConceptScore W3047486716C2781172350 @default.
• W3047486716 hasConceptScore W3047486716C2908647359 @default.
• W3047486716 hasConceptScore W3047486716C54355233 @default.
• W3047486716 hasConceptScore W3047486716C551499885 @default.
• W3047486716 hasConceptScore W3047486716C71924100 @default.
• W3047486716 hasConceptScore W3047486716C86803240 @default.
• W3047486716 hasConceptScore W3047486716C99454951 @default.
• W3047486716 hasIssue "10" @default.
• W3047486716 hasLocation W30474867161 @default.
• W3047486716 hasOpenAccess W3047486716 @default.
• W3047486716 hasPrimaryLocation W30474867161 @default.
• W3047486716 hasRelatedWork W2141499822 @default.
• W3047486716 hasRelatedWork W2151523001 @default.
• W3047486716 hasRelatedWork W2893232278 @default.

• next