Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
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| Title: | Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1. |
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| Authors: | Shimabukuro W; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan., Chinen Y; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan.; Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan., Imanaga N; Department of Ophthalmology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan., Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Nakanishi K; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan. knakanis@med.u-ryukyu.ac.jp.; Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan. knakanis@med.u-ryukyu.ac.jp. |
| Source: | Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Aug; Vol. 39 (8), pp. 2351-2353. Date of Electronic Publication: 2024 Mar 11. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol 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: 38467926 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Shimabukuro+W%22">Shimabukuro W</searchLink>; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan.<br /><searchLink fieldCode="AU" term="%22Chinen+Y%22">Chinen Y</searchLink>; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan.; Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan.<br /><searchLink fieldCode="AU" term="%22Imanaga+N%22">Imanaga N</searchLink>; Department of Ophthalmology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan.<br /><searchLink fieldCode="AU" term="%22Yanagi+K%22">Yanagi K</searchLink>; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kaname+T%22">Kaname T</searchLink>; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Nakanishi+K%22">Nakanishi K</searchLink>; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan. knakanis@med.u-ryukyu.ac.jp.; Genetic Counseling Unit, University of the Ryukyus Hospital, Nishihara, Okinawa, Japan. knakanis@med.u-ryukyu.ac.jp. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228708728%22">Pediatric nephrology (Berlin, Germany)</searchLink> [Pediatr Nephrol] 2024 Aug; Vol. 39 (8), pp. 2351-2353. <i>Date of Electronic Publication: </i>2024 Mar 11. – 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="%22Springer+International%22">Springer International </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>8708728 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-198X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220931041X%22">0931041X </searchLink><i>NLM ISO Abbreviation: </i>Pediatr Nephrol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38467926 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00467-024-06347-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2351 Titles: – TitleFull: Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Shimabukuro W – PersonEntity: Name: NameFull: Chinen Y – PersonEntity: Name: NameFull: Imanaga N – PersonEntity: Name: NameFull: Yanagi K – PersonEntity: Name: NameFull: Kaname T – PersonEntity: Name: NameFull: Nakanishi K IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2024 Aug Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1432-198X Numbering: – Type: volume Value: 39 – Type: issue Value: 8 Titles: – TitleFull: Pediatric nephrology (Berlin, Germany) Type: main |
| ResultId | 1 |
