Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.
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| Title: | Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder. |
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| Authors: | Whyte MP; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mwhyte@wustl.edu., Weinstein RS; Division of Endocrinology, Metabolic Bone Diseases, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. Electronic address: WeinsteinRobertS@uams.edu., Phillips PH; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: PhillipsPaulH@uams.edu., McAlister WH; Mallinckrodt Institute of Radiology at St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mcalisterw@wustl.edu., Ramakrishnaiah RH; Department of Radiology, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: Raghuhr@uams.edu., Schaefer GB; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: SchaeferGB@uams.edu., Cai R; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA., Hutchison MR; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: MRHutchinson@salud.unm.edu., Duan S; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: sduan@wustl.edu., Gottesman GS; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: gsgottesman@wustl.edu., Mumm S; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: smumm@wustl.edu. |
| Source: | Bone [Bone] 2024 Nov; Vol. 188, pp. 117218. Date of Electronic Publication: 2024 Jul 30. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39084544 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Whyte+MP%22">Whyte MP</searchLink>; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mwhyte@wustl.edu.<br /><searchLink fieldCode="AU" term="%22Weinstein+RS%22">Weinstein RS</searchLink>; Division of Endocrinology, Metabolic Bone Diseases, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. Electronic address: WeinsteinRobertS@uams.edu.<br /><searchLink fieldCode="AU" term="%22Phillips+PH%22">Phillips PH</searchLink>; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: PhillipsPaulH@uams.edu.<br /><searchLink fieldCode="AU" term="%22McAlister+WH%22">McAlister WH</searchLink>; Mallinckrodt Institute of Radiology at St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mcalisterw@wustl.edu.<br /><searchLink fieldCode="AU" term="%22Ramakrishnaiah+RH%22">Ramakrishnaiah RH</searchLink>; Department of Radiology, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: Raghuhr@uams.edu.<br /><searchLink fieldCode="AU" term="%22Schaefer+GB%22">Schaefer GB</searchLink>; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: SchaeferGB@uams.edu.<br /><searchLink fieldCode="AU" term="%22Cai+R%22">Cai R</searchLink>; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA.<br /><searchLink fieldCode="AU" term="%22Hutchison+MR%22">Hutchison MR</searchLink>; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: MRHutchinson@salud.unm.edu.<br /><searchLink fieldCode="AU" term="%22Duan+S%22">Duan S</searchLink>; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: sduan@wustl.edu.<br /><searchLink fieldCode="AU" term="%22Gottesman+GS%22">Gottesman GS</searchLink>; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: gsgottesman@wustl.edu.<br /><searchLink fieldCode="AU" term="%22Mumm+S%22">Mumm S</searchLink>; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: smumm@wustl.edu. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228504048%22">Bone</searchLink> [Bone] 2024 Nov; Vol. 188, pp. 117218. <i>Date of Electronic Publication: </i>2024 Jul 30. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Science%22">Elsevier Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8504048 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-2763 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2218732763%22">18732763 </searchLink><i>NLM ISO Abbreviation: </i>Bone <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39084544 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.bone.2024.117218 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 117218 Titles: – TitleFull: Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Whyte MP – PersonEntity: Name: NameFull: Weinstein RS – PersonEntity: Name: NameFull: Phillips PH – PersonEntity: Name: NameFull: McAlister WH – PersonEntity: Name: NameFull: Ramakrishnaiah RH – PersonEntity: Name: NameFull: Schaefer GB – PersonEntity: Name: NameFull: Cai R – PersonEntity: Name: NameFull: Hutchison MR – PersonEntity: Name: NameFull: Duan S – PersonEntity: Name: NameFull: Gottesman GS – PersonEntity: Name: NameFull: Mumm S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 11 Text: 2024 Nov Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1873-2763 Numbering: – Type: volume Value: 188 Titles: – TitleFull: Bone Type: main |
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