A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.
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| Title: | A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly. |
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| Authors: | Rogers AP; Women's and Children's Hospital, Paediatric and Reproductive Genetics Unit, North Adelaide, South Australia, Australia., Friend K; Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Rawlings L; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Barnett CP; Women's and Children's Hospital, Paediatric and Reproductive Genetics Unit, North Adelaide, South Australia, Australia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2586-2592. Date of Electronic Publication: 2021 May 01. |
| 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: 33931951 AccessLevel: 2 PubType: Report PubTypeId: report PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rogers+AP%22">Rogers AP</searchLink>; Women's and Children's Hospital, Paediatric and Reproductive Genetics Unit, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Friend+K%22">Friend K</searchLink>; Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Rawlings+L%22">Rawlings L</searchLink>; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; Women's and Children's Hospital, Paediatric and Reproductive Genetics Unit, 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] 2021 Aug; Vol. 185 (8), pp. 2586-2592. <i>Date of Electronic Publication: </i>2021 May 01. – 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=33931951 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.62238 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2586 Titles: – TitleFull: A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Rogers AP – PersonEntity: Name: NameFull: Friend K – PersonEntity: Name: NameFull: Rawlings L – PersonEntity: Name: NameFull: Barnett CP IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2021 Aug Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 185 – Type: issue Value: 8 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
| ResultId | 1 |
