Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome.
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| Title: | Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome. |
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| Authors: | Margiotti K; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy. katia.margiotti@artemisia.it., Fabiani M; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Zangheri C; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Cima A; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Monaco F; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Libotte F; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Ali' C; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Barone MA; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Viola A; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Mesoraca A; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy., Giorlandino C; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.; Department of Prenatal Diagnosis, Fetal-Maternal Medical Centre, Viale Liegi 45, Altamedica, Rome, 00198, Italy. |
| Source: | Neurogenetics [Neurogenetics] 2025 Aug 15; Vol. 26 (1), pp. 63. Date of Electronic Publication: 2025 Aug 15. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40815429 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Margiotti+K%22">Margiotti K</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy. katia.margiotti@artemisia.it.<br /><searchLink fieldCode="AU" term="%22Fabiani+M%22">Fabiani M</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Zangheri+C%22">Zangheri C</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Cima+A%22">Cima A</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Monaco+F%22">Monaco F</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Libotte+F%22">Libotte F</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Ali'+C%22">Ali' C</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Barone+MA%22">Barone MA</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Viola+A%22">Viola A</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Mesoraca+A%22">Mesoraca A</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.<br /><searchLink fieldCode="AU" term="%22Giorlandino+C%22">Giorlandino C</searchLink>; Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy.; Department of Prenatal Diagnosis, Fetal-Maternal Medical Centre, Viale Liegi 45, Altamedica, Rome, 00198, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2025 Aug 15; Vol. 26 (1), pp. 63. <i>Date of Electronic Publication: </i>2025 Aug 15. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9709714 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1364-6753 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213646745%22">13646745 </searchLink><i>NLM ISO Abbreviation: </i>Neurogenetics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40815429 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10048-025-00842-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 63 Titles: – TitleFull: Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Margiotti K – PersonEntity: Name: NameFull: Fabiani M – PersonEntity: Name: NameFull: Zangheri C – PersonEntity: Name: NameFull: Cima A – PersonEntity: Name: NameFull: Monaco F – PersonEntity: Name: NameFull: Libotte F – PersonEntity: Name: NameFull: Ali' C – PersonEntity: Name: NameFull: Barone MA – PersonEntity: Name: NameFull: Viola A – PersonEntity: Name: NameFull: Mesoraca A – PersonEntity: Name: NameFull: Giorlandino C IsPartOfRelationships: – BibEntity: Dates: – D: 15 M: 08 Text: 2025 Aug 15 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1364-6753 Numbering: – Type: volume Value: 26 – Type: issue Value: 1 Titles: – TitleFull: Neurogenetics Type: main |
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