Matches in SemOpenAlex for { <https://semopenalex.org/work/W2088777012> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2088777012 endingPage "181" @default.
- W2088777012 startingPage "175" @default.
- W2088777012 abstract "We report on a 17-year-old girl considered to represent a forme fruste of Rett syndrome. The history showed normal psychomotor development until age 20 months, when the girl successively lost acquired speech and developed autistic traits, moderate dementia, partial apraxia and microcephaly. However, she never stopped using her hands purposefully, nor did she develop the hand stereotypies characteristic of Rett syndrome. From age 4 years she successively became more communicable and regained some of the previous abilities including some speech. At 17 she showed most of the abnormalities characteristic of adolescent girls with Rett syndrome but was still only moderately retarded, with remarkably preserved motor functions. She had a peculiar apraxia. She seemed to lack the key to using her hands, while retaining a pincer grasp and some manipulative skills in her fingers. - It is suggested that the phenotype of Rett syndrome can vary considerably and that formes frustes may not be an exceptional rarity among mentally retarded girls." @default.
- W2088777012 created "2016-06-24" @default.
- W2088777012 creator A5037664856 @default.
- W2088777012 creator A5059965562 @default.
- W2088777012 creator A5066612569 @default.
- W2088777012 creator A5074375882 @default.
- W2088777012 date "1986-01-01" @default.
- W2088777012 modified "2023-10-16" @default.
- W2088777012 title "“Forme fruste” of rett syndrome - a case report" @default.
- W2088777012 cites W1967452178 @default.
- W2088777012 cites W2062943711 @default.
- W2088777012 cites W2063840478 @default.
- W2088777012 cites W2134897881 @default.
- W2088777012 cites W2139842232 @default.
- W2088777012 doi "https://doi.org/10.1002/ajmg.1320250520" @default.
- W2088777012 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3087179" @default.
- W2088777012 hasPublicationYear "1986" @default.
- W2088777012 type Work @default.
- W2088777012 sameAs 2088777012 @default.
- W2088777012 citedByCount "30" @default.
- W2088777012 countsByYear W20887770122012 @default.
- W2088777012 countsByYear W20887770122015 @default.
- W2088777012 countsByYear W20887770122016 @default.
- W2088777012 countsByYear W20887770122018 @default.
- W2088777012 countsByYear W20887770122019 @default.
- W2088777012 crossrefType "journal-article" @default.
- W2088777012 hasAuthorship W2088777012A5037664856 @default.
- W2088777012 hasAuthorship W2088777012A5059965562 @default.
- W2088777012 hasAuthorship W2088777012A5066612569 @default.
- W2088777012 hasAuthorship W2088777012A5074375882 @default.
- W2088777012 hasConcept C104317684 @default.
- W2088777012 hasConcept C118552586 @default.
- W2088777012 hasConcept C138496976 @default.
- W2088777012 hasConcept C15744967 @default.
- W2088777012 hasConcept C164953862 @default.
- W2088777012 hasConcept C169900460 @default.
- W2088777012 hasConcept C187212893 @default.
- W2088777012 hasConcept C2776395126 @default.
- W2088777012 hasConcept C2776818353 @default.
- W2088777012 hasConcept C2777543196 @default.
- W2088777012 hasConcept C2778047097 @default.
- W2088777012 hasConcept C2779422653 @default.
- W2088777012 hasConcept C54355233 @default.
- W2088777012 hasConcept C548259974 @default.
- W2088777012 hasConcept C71924100 @default.
- W2088777012 hasConcept C86803240 @default.
- W2088777012 hasConceptScore W2088777012C104317684 @default.
- W2088777012 hasConceptScore W2088777012C118552586 @default.
- W2088777012 hasConceptScore W2088777012C138496976 @default.
- W2088777012 hasConceptScore W2088777012C15744967 @default.
- W2088777012 hasConceptScore W2088777012C164953862 @default.
- W2088777012 hasConceptScore W2088777012C169900460 @default.
- W2088777012 hasConceptScore W2088777012C187212893 @default.
- W2088777012 hasConceptScore W2088777012C2776395126 @default.
- W2088777012 hasConceptScore W2088777012C2776818353 @default.
- W2088777012 hasConceptScore W2088777012C2777543196 @default.
- W2088777012 hasConceptScore W2088777012C2778047097 @default.
- W2088777012 hasConceptScore W2088777012C2779422653 @default.
- W2088777012 hasConceptScore W2088777012C54355233 @default.
- W2088777012 hasConceptScore W2088777012C548259974 @default.
- W2088777012 hasConceptScore W2088777012C71924100 @default.
- W2088777012 hasConceptScore W2088777012C86803240 @default.
- W2088777012 hasIssue "S1" @default.
- W2088777012 hasLocation W20887770121 @default.
- W2088777012 hasLocation W20887770122 @default.
- W2088777012 hasOpenAccess W2088777012 @default.
- W2088777012 hasPrimaryLocation W20887770121 @default.
- W2088777012 hasRelatedWork W1515710569 @default.
- W2088777012 hasRelatedWork W1986700888 @default.
- W2088777012 hasRelatedWork W2020339275 @default.
- W2088777012 hasRelatedWork W2074306950 @default.
- W2088777012 hasRelatedWork W2088777012 @default.
- W2088777012 hasRelatedWork W2402874271 @default.
- W2088777012 hasRelatedWork W2415836142 @default.
- W2088777012 hasRelatedWork W2416266968 @default.
- W2088777012 hasRelatedWork W39182924 @default.
- W2088777012 hasRelatedWork W81469697 @default.
- W2088777012 hasVolume "25" @default.
- W2088777012 isParatext "false" @default.
- W2088777012 isRetracted "false" @default.
- W2088777012 magId "2088777012" @default.
- W2088777012 workType "article" @default.