Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
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| Title: | Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant |
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| Authors: | Gupta N; Vanderbilt University Medical Center, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Tennessee, USA; Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Endocrinology and Metabolism, Minnesota, USA, Gregory SW; Mayo Clinic Health System, Department of Pediatric and Adolescent Medicine, Minnesota, USA, Deyle DR; Mayo Clinic, Department of Medical Genetics, Minnesota, USA, Tebben PJ; Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Endocrinology and Metabolism, Minnesota, USA; Mayo Clinic, Department of Medicine, Division of Endocrinology, Metabolism and Nutrition, Minnesota, USA |
| Source: | Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2021 Jun 02; Vol. 13 (2), pp. 218-224. Date of Electronic Publication: 2020 Jun 10. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32519829 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Gupta+N%22">Gupta N</searchLink>; Vanderbilt University Medical Center, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Tennessee, USA; Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Endocrinology and Metabolism, Minnesota, USA<br /><searchLink fieldCode="AU" term="%22Gregory+SW%22">Gregory SW</searchLink>; Mayo Clinic Health System, Department of Pediatric and Adolescent Medicine, Minnesota, USA<br /><searchLink fieldCode="AU" term="%22Deyle+DR%22">Deyle DR</searchLink>; Mayo Clinic, Department of Medical Genetics, Minnesota, USA<br /><searchLink fieldCode="AU" term="%22Tebben+PJ%22">Tebben PJ</searchLink>; Mayo Clinic, Department of Pediatric and Adolescent Medicine, Division of Endocrinology and Metabolism, Minnesota, USA; Mayo Clinic, Department of Medicine, Division of Endocrinology, Metabolism and Nutrition, Minnesota, USA – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101519456%22">Journal of clinical research in pediatric endocrinology</searchLink> [J Clin Res Pediatr Endocrinol] 2021 Jun 02; Vol. 13 (2), pp. 218-224. <i>Date of Electronic Publication: </i>2020 Jun 10. – 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="%22Galenos+Yayınevi%22">Galenos Yayınevi </searchLink><i>Country of Publication: </i>Turkey <i>NLM ID: </i>101519456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1308-5735 (Electronic) <i>NLM ISO Abbreviation: </i>J Clin Res Pediatr Endocrinol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32519829 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.4274/jcrpe.galenos.2020.2020.0012 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 218 Titles: – TitleFull: Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gupta N – PersonEntity: Name: NameFull: Gregory SW – PersonEntity: Name: NameFull: Deyle DR – PersonEntity: Name: NameFull: Tebben PJ IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 06 Text: 2021 Jun 02 Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1308-5735 Numbering: – Type: volume Value: 13 – Type: issue Value: 2 Titles: – TitleFull: Journal of clinical research in pediatric endocrinology Type: main |
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