Matches in SemOpenAlex for { <https://semopenalex.org/work/W3162003522> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W3162003522 abstract "Rett syndrome is an X-linked dominant disorder that is primarily seen in females and is linked to mutations in the gene coding for Methyl-CpG Binding Protein 2 (MECP2). It is a neurodevelopmental disorder characterised by impairments in language, repetitive movements, early-onset seizures, delayed growth, autistic features, intellectual disability and abnormal Electroencephalograms (EEG). Author’s reported a case of three year six months old Indian girl who was born of a nonconsanguineous marriage presented with stereotypic hand movements, gradual loss of speech, inability to walk independently and frequent episodes of seizure. Genetic testing for analysis of MECP2 mutations was performed and a novel de novo missense variant (c.361G>A, p.Asp121Asn) was identified, which was predicted to be disease causing on the basis of insilico analysis and clinical findings. The study suggested that a careful evaluation of the pathogenic nature of MECP2 variants supports clinical diagnosis and aids in genetic counseling and patient management." @default.
- W3162003522 created "2021-05-24" @default.
- W3162003522 creator A5018955249 @default.
- W3162003522 creator A5034561423 @default.
- W3162003522 creator A5039090162 @default.
- W3162003522 creator A5071815929 @default.
- W3162003522 creator A5082320704 @default.
- W3162003522 date "2021-01-01" @default.
- W3162003522 modified "2023-09-25" @default.
- W3162003522 title "A Novel Methyl-CpG Binding Protein 2 (MECP2) Variant in an Indian Girl with Rett Syndrome" @default.
- W3162003522 doi "https://doi.org/10.7860/jcdr/2020/47641.14753" @default.
- W3162003522 hasPublicationYear "2021" @default.
- W3162003522 type Work @default.
- W3162003522 sameAs 3162003522 @default.
- W3162003522 citedByCount "0" @default.
- W3162003522 crossrefType "journal-article" @default.
- W3162003522 hasAuthorship W3162003522A5018955249 @default.
- W3162003522 hasAuthorship W3162003522A5034561423 @default.
- W3162003522 hasAuthorship W3162003522A5039090162 @default.
- W3162003522 hasAuthorship W3162003522A5071815929 @default.
- W3162003522 hasAuthorship W3162003522A5082320704 @default.
- W3162003522 hasBestOaLocation W31620035221 @default.
- W3162003522 hasConcept C104317684 @default.
- W3162003522 hasConcept C118552586 @default.
- W3162003522 hasConcept C126322002 @default.
- W3162003522 hasConcept C127716648 @default.
- W3162003522 hasConcept C187212893 @default.
- W3162003522 hasConcept C205778803 @default.
- W3162003522 hasConcept C2777543196 @default.
- W3162003522 hasConcept C2778047097 @default.
- W3162003522 hasConcept C2778863441 @default.
- W3162003522 hasConcept C2779134260 @default.
- W3162003522 hasConcept C2779388368 @default.
- W3162003522 hasConcept C501734568 @default.
- W3162003522 hasConcept C54355233 @default.
- W3162003522 hasConcept C551499885 @default.
- W3162003522 hasConcept C71924100 @default.
- W3162003522 hasConcept C75563809 @default.
- W3162003522 hasConcept C86803240 @default.
- W3162003522 hasConceptScore W3162003522C104317684 @default.
- W3162003522 hasConceptScore W3162003522C118552586 @default.
- W3162003522 hasConceptScore W3162003522C126322002 @default.
- W3162003522 hasConceptScore W3162003522C127716648 @default.
- W3162003522 hasConceptScore W3162003522C187212893 @default.
- W3162003522 hasConceptScore W3162003522C205778803 @default.
- W3162003522 hasConceptScore W3162003522C2777543196 @default.
- W3162003522 hasConceptScore W3162003522C2778047097 @default.
- W3162003522 hasConceptScore W3162003522C2778863441 @default.
- W3162003522 hasConceptScore W3162003522C2779134260 @default.
- W3162003522 hasConceptScore W3162003522C2779388368 @default.
- W3162003522 hasConceptScore W3162003522C501734568 @default.
- W3162003522 hasConceptScore W3162003522C54355233 @default.
- W3162003522 hasConceptScore W3162003522C551499885 @default.
- W3162003522 hasConceptScore W3162003522C71924100 @default.
- W3162003522 hasConceptScore W3162003522C75563809 @default.
- W3162003522 hasConceptScore W3162003522C86803240 @default.
- W3162003522 hasLocation W31620035221 @default.
- W3162003522 hasLocation W31620035222 @default.
- W3162003522 hasOpenAccess W3162003522 @default.
- W3162003522 hasPrimaryLocation W31620035221 @default.
- W3162003522 hasRelatedWork W1975701585 @default.
- W3162003522 hasRelatedWork W2035412136 @default.
- W3162003522 hasRelatedWork W2039074626 @default.
- W3162003522 hasRelatedWork W2040862066 @default.
- W3162003522 hasRelatedWork W2079416851 @default.
- W3162003522 hasRelatedWork W2088391943 @default.
- W3162003522 hasRelatedWork W2127698681 @default.
- W3162003522 hasRelatedWork W2291273846 @default.
- W3162003522 hasRelatedWork W3162003522 @default.
- W3162003522 hasRelatedWork W4210964151 @default.
- W3162003522 isParatext "false" @default.
- W3162003522 isRetracted "false" @default.
- W3162003522 magId "3162003522" @default.
- W3162003522 workType "article" @default.