Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.
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| Title: | Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. |
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| Authors: | Coursimault J; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France., Saugier-Veber P; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France., Drouin-Garraud V; Department of Pediatrics, Rouen University Hospital, F-76000, Rouen, France., Lechevallier J; Department of Pediatric Surgery, Rouen University Hospital, F-76000, Rouen, France., Boland A; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Frebourg T; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France., Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France., Brehin AC; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France. Electronic address: anne-claire.brehin@chu-rouen.fr. |
| Source: | European journal of medical genetics [Eur J Med Genet] 2021 Apr; Vol. 64 (4), pp. 104166. Date of Electronic Publication: 2021 Feb 09. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33571694 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Drouin-Garraud+V%22">Drouin-Garraud V</searchLink>; Department of Pediatrics, Rouen University Hospital, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lechevallier+J%22">Lechevallier J</searchLink>; Department of Pediatric Surgery, Rouen University Hospital, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Boland+A%22">Boland A</searchLink>; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.<br /><searchLink fieldCode="AU" term="%22Deleuze+JF%22">Deleuze JF</searchLink>; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.<br /><searchLink fieldCode="AU" term="%22Frebourg+T%22">Frebourg T</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Brehin+AC%22">Brehin AC</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F-76000 Rouen, France. Electronic address: anne-claire.brehin@chu-rouen.fr. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2021 Apr; Vol. 64 (4), pp. 104166. <i>Date of Electronic Publication: </i>2021 Feb 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33571694 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ejmg.2021.104166 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 104166 Titles: – TitleFull: Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Coursimault J – PersonEntity: Name: NameFull: Lecoquierre F – PersonEntity: Name: NameFull: Saugier-Veber P – PersonEntity: Name: NameFull: Drouin-Garraud V – PersonEntity: Name: NameFull: Lechevallier J – PersonEntity: Name: NameFull: Boland A – PersonEntity: Name: NameFull: Deleuze JF – PersonEntity: Name: NameFull: Frebourg T – PersonEntity: Name: NameFull: Nicolas G – PersonEntity: Name: NameFull: Brehin AC IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2021 Apr Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1878-0849 Numbering: – Type: volume Value: 64 – Type: issue Value: 4 Titles: – TitleFull: European journal of medical genetics Type: main |
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