First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.
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| Title: | First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1. |
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| Authors: | Danda S; Department of Medical Genetics, Christian Medical College and Hospital, Vellore, India., Datar C; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India., Kher A; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India., Deshpande T; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India., Thomas MM; Department of Paediatric Neurology, Christian Medical College and Hospital, Vellore, India., Oommen SP; Department of Developmental Paediatrics, Christian Medical College and Hospital, Vellore, India. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2501-2504. Date of Electronic Publication: 2022 May 21. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35596688 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Danda+S%22">Danda S</searchLink>; Department of Medical Genetics, Christian Medical College and Hospital, Vellore, India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India.<br /><searchLink fieldCode="AU" term="%22Kher+A%22">Kher A</searchLink>; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India.<br /><searchLink fieldCode="AU" term="%22Deshpande+T%22">Deshpande T</searchLink>; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India.<br /><searchLink fieldCode="AU" term="%22Thomas+MM%22">Thomas MM</searchLink>; Department of Paediatric Neurology, Christian Medical College and Hospital, Vellore, India.<br /><searchLink fieldCode="AU" term="%22Oommen+SP%22">Oommen SP</searchLink>; Department of Developmental Paediatrics, Christian Medical College and Hospital, Vellore, India. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2501-2504. <i>Date of Electronic Publication: </i>2022 May 21. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Research Support, Non-U.S. Gov't; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35596688 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.62844 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2501 Titles: – TitleFull: First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Danda S – PersonEntity: Name: NameFull: Datar C – PersonEntity: Name: NameFull: Kher A – PersonEntity: Name: NameFull: Deshpande T – PersonEntity: Name: NameFull: Thomas MM – PersonEntity: Name: NameFull: Oommen SP IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2022 Aug Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 188 – Type: issue Value: 8 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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