Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
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| Title: | Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. |
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| Authors: | Ruggeri G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington., Cheng C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Weiss A; Division of Ophthalmology, Roger H. Johnson Vision Lab, Seattle Children's Hospital, Seattle, Washington.; Department of Ophthalmology, University of Washington School of Medicine, Seattle, Washington., Kollros P; Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, Washington., Chapman T; Department of Radiology, Seattle Children's Hospital, Seattle, Washington.; University of Washington School of Medicine, University of Washington, Seattle, Washington., Tully H; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, Washington., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2018 Mar; Vol. 176 (3), pp. 676-681. Date of Electronic Publication: 2018 Jan 17. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A 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: 29341397 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ruggeri+G%22">Ruggeri G</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Timms+AE%22">Timms AE</searchLink>; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Cheng+C%22">Cheng C</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Weiss+A%22">Weiss A</searchLink>; Division of Ophthalmology, Roger H. Johnson Vision Lab, Seattle Children's Hospital, Seattle, Washington.; Department of Ophthalmology, University of Washington School of Medicine, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Kollros+P%22">Kollros P</searchLink>; Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Chapman+T%22">Chapman T</searchLink>; Department of Radiology, Seattle Children's Hospital, Seattle, Washington.; University of Washington School of Medicine, University of Washington, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Tully+H%22">Tully H</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Mirzaa+GM%22">Mirzaa GM</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2018 Mar; Vol. 176 (3), pp. 676-681. <i>Date of Electronic Publication: </i>2018 Jan 17. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29341397 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.38592 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 676 Titles: – TitleFull: Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ruggeri G – PersonEntity: Name: NameFull: Timms AE – PersonEntity: Name: NameFull: Cheng C – PersonEntity: Name: NameFull: Weiss A – PersonEntity: Name: NameFull: Kollros P – PersonEntity: Name: NameFull: Chapman T – PersonEntity: Name: NameFull: Tully H – PersonEntity: Name: NameFull: Mirzaa GM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2018 Mar Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 176 – Type: issue Value: 3 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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