Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.
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| Title: | Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report. |
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| Authors: | O'Keefe S; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA. siobhanokeefe2@gmail.com., Wefuan DT; Vidant Duplin Hospital, 401 N Main St, Suite C-9, Kenansville, NC, 28349, USA., Humberson JB; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Schmidt K; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA., Wiley J; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA. |
| Source: | Journal of medical case reports [J Med Case Rep] 2016 Aug 12; Vol. 10 (1), pp. 223. Date of Electronic Publication: 2016 Aug 12. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 27520388 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22O'Keefe+S%22">O'Keefe S</searchLink>; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA. siobhanokeefe2@gmail.com.<br /><searchLink fieldCode="AU" term="%22Wefuan+DT%22">Wefuan DT</searchLink>; Vidant Duplin Hospital, 401 N Main St, Suite C-9, Kenansville, NC, 28349, USA.<br /><searchLink fieldCode="AU" term="%22Humberson+JB%22">Humberson JB</searchLink>; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Schmidt+K%22">Schmidt K</searchLink>; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA.<br /><searchLink fieldCode="AU" term="%22Wiley+J%22">Wiley J</searchLink>; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101293382%22">Journal of medical case reports</searchLink> [J Med Case Rep] 2016 Aug 12; Vol. 10 (1), pp. 223. <i>Date of Electronic Publication: </i>2016 Aug 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101293382 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1752-1947 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217521947%22">17521947 </searchLink><i>NLM ISO Abbreviation: </i>J Med Case Rep <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=27520388 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13256-016-0997-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 223 Titles: – TitleFull: Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: O'Keefe S – PersonEntity: Name: NameFull: Wefuan DT – PersonEntity: Name: NameFull: Humberson JB – PersonEntity: Name: NameFull: Schmidt K – PersonEntity: Name: NameFull: Wiley J IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 08 Text: 2016 Aug 12 Type: published Y: 2016 Identifiers: – Type: issn-electronic Value: 1752-1947 Numbering: – Type: volume Value: 10 – Type: issue Value: 1 Titles: – TitleFull: Journal of medical case reports Type: main |
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