Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
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| Title: | Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. |
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| Authors: | Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Casar Tena T; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany., Diehl T; Department of Paediatrics, Neonatal Intensive Care Unit, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Burczyk MS; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764, Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, 81675, Munich, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Philipp M; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany. melanie.philipp@uni-ulm.de., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. d.lessel@uke.de. |
| Source: | Human genetics [Hum Genet] 2017 Mar; Vol. 136 (3), pp. 339-346. Date of Electronic Publication: 2017 Feb 08. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28180938 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Casar+Tena+T%22">Casar Tena T</searchLink>; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Diehl+T%22">Diehl T</searchLink>; Department of Paediatrics, Neonatal Intensive Care Unit, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Burczyk+MS%22">Burczyk MS</searchLink>; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Strom+TM%22">Strom TM</searchLink>; Institute of Human Genetics, Helmholtz Zentrum München, 85764, Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, 81675, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kubisch+C%22">Kubisch C</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Philipp+M%22">Philipp M</searchLink>; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany. melanie.philipp@uni-ulm.de.<br /><searchLink fieldCode="AU" term="%22Lessel+D%22">Lessel D</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. d.lessel@uke.de. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2017 Mar; Vol. 136 (3), pp. 339-346. <i>Date of Electronic Publication: </i>2017 Feb 08. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – 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>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28180938 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-017-1762-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 339 Titles: – TitleFull: Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Hempel M – PersonEntity: Name: NameFull: Casar Tena T – PersonEntity: Name: NameFull: Diehl T – PersonEntity: Name: NameFull: Burczyk MS – PersonEntity: Name: NameFull: Strom TM – PersonEntity: Name: NameFull: Kubisch C – PersonEntity: Name: NameFull: Philipp M – PersonEntity: Name: NameFull: Lessel D IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2017 Mar Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 136 – Type: issue Value: 3 Titles: – TitleFull: Human genetics Type: main |
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