Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.
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| Title: | Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly. |
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| Authors: | Ludington EG; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Yu S; Genetic Medicine, SA Pathology, North Adelaide, South Australia, Australia., Bae HA; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul; Vol. 182 (7), pp. 1824-1828. Date of Electronic Publication: 2020 Apr 24. |
| Publication Type: | Case Reports; Letter |
| 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: 32329157 AccessLevel: 2 PubType: Report PubTypeId: report PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ludington+EG%22">Ludington EG</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Yu+S%22">Yu S</searchLink>; Genetic Medicine, SA Pathology, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Bae+HA%22">Bae HA</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia. – 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] 2020 Jul; Vol. 182 (7), pp. 1824-1828. <i>Date of Electronic Publication: </i>2020 Apr 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Letter – 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=32329157 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.61592 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1824 Titles: – TitleFull: Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ludington EG – PersonEntity: Name: NameFull: Yu S – PersonEntity: Name: NameFull: Bae HA – PersonEntity: Name: NameFull: Barnett CP IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2020 Jul Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 182 – Type: issue Value: 7 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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