A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.
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| Title: | A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature. |
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| Authors: | Erdogan M; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey., Unal A; Department of Medical Genetics, Antalya Training and Research Hospital, Antalya, Turkey., Dogan ME; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey., Oguz S; Department of Medical Genetics, Istanbul Zeynep Kamil Women and Children's Diseases Health Training and Research Center, Istanbul, Turkey., Balta B; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey., Ada Y; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey., Kiraz A; Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, Turkey., Dundar M; Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, Turkey. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64072. Date of Electronic Publication: 2025 Apr 17. |
| Publication Type: | Journal Article; Review |
| 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: 40243280 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Erdogan+M%22">Erdogan M</searchLink>; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Unal+A%22">Unal A</searchLink>; Department of Medical Genetics, Antalya Training and Research Hospital, Antalya, Turkey.<br /><searchLink fieldCode="AU" term="%22Dogan+ME%22">Dogan ME</searchLink>; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Oguz+S%22">Oguz S</searchLink>; Department of Medical Genetics, Istanbul Zeynep Kamil Women and Children's Diseases Health Training and Research Center, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Balta+B%22">Balta B</searchLink>; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Ada+Y%22">Ada Y</searchLink>; Department of Medical Genetics, Kayseri City Hospital, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Kiraz+A%22">Kiraz A</searchLink>; Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Dundar+M%22">Dundar M</searchLink>; Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, Turkey. – 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] 2025 Sep; Vol. 197 (9), pp. e64072. <i>Date of Electronic Publication: </i>2025 Apr 17. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Review – 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=40243280 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.64072 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e64072 Titles: – TitleFull: A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Erdogan M – PersonEntity: Name: NameFull: Unal A – PersonEntity: Name: NameFull: Dogan ME – PersonEntity: Name: NameFull: Oguz S – PersonEntity: Name: NameFull: Balta B – PersonEntity: Name: NameFull: Ada Y – PersonEntity: Name: NameFull: Kiraz A – PersonEntity: Name: NameFull: Dundar M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2025 Sep Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 197 – Type: issue Value: 9 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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