Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
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| Title: | Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. |
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| Authors: | Mullegama SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Klein SD; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California., Signer RH; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California., Vilain E; Department of Genomic and Precision Medicine, Children's National Hospital, Washington, District of Columbia., Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.; UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California. |
| Corporate Authors: | UCLA Clinical Genomics Center; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California. |
| Source: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Feb; Vol. 7 (2), pp. e00501. Date of Electronic Publication: 2018 Nov 16. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med 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: 30447054 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Mullegama+SV%22">Mullegama SV</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Klein+SD%22">Klein SD</searchLink>; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Signer+RH%22">Signer RH</searchLink>; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Vilain+E%22">Vilain E</searchLink>; Department of Genomic and Precision Medicine, Children's National Hospital, Washington, District of Columbia.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+JA%22">Martinez-Agosto JA</searchLink>; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.; UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22UCLA+Clinical+Genomics+Center%22">UCLA Clinical Genomics Center</searchLink>; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101603758%22">Molecular genetics & genomic medicine</searchLink> [Mol Genet Genomic Med] 2019 Feb; Vol. 7 (2), pp. e00501. <i>Date of Electronic Publication: </i>2018 Nov 16. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%22">John Wiley & Sons </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101603758 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2324-9269 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223249269%22">23249269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomic Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30447054 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.501 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e00501 Titles: – TitleFull: Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Mullegama SV – PersonEntity: Name: NameFull: Klein SD – PersonEntity: Name: NameFull: Signer RH – PersonEntity: Name: NameFull: Vilain E – PersonEntity: Name: NameFull: Martinez-Agosto JA IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2019 Feb Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 2324-9269 Numbering: – Type: volume Value: 7 – Type: issue Value: 2 Titles: – TitleFull: Molecular genetics & genomic medicine Type: main |
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