Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.
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| Title: | Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. |
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| Authors: | Zhuang J; Prenatal diagnosis center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, China. 415913261@qq.com., Huang N; The teaching and research office of clinical laboratory medicine, Quanzhou Medical College, Quanzhou, 362000, China., Wang J; Prenatal diagnosis center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, China. 86813685@qq.com., Chen C; Department of Neurology, Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian, China. chenchunnuan1983@aliyun.com. |
| Source: | Human genomics [Hum Genomics] 2026 Jan 31; Vol. 20 (1). Date of Electronic Publication: 2026 Jan 31. |
| Publication Type: | Journal Article; Case Reports; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41620759 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Zhuang+J%22">Zhuang J</searchLink>; Prenatal diagnosis center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, China. 415913261@qq.com.<br /><searchLink fieldCode="AU" term="%22Huang+N%22">Huang N</searchLink>; The teaching and research office of clinical laboratory medicine, Quanzhou Medical College, Quanzhou, 362000, China.<br /><searchLink fieldCode="AU" term="%22Wang+J%22">Wang J</searchLink>; Prenatal diagnosis center, Women's and Children's Affiliated Hospital of Huaqiao University, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, China. 86813685@qq.com.<br /><searchLink fieldCode="AU" term="%22Chen+C%22">Chen C</searchLink>; Department of Neurology, Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian, China. chenchunnuan1983@aliyun.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2026 Jan 31; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 Jan 31. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41620759 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s40246-026-00922-1 Languages: – Code: eng Text: English Titles: – TitleFull: Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Zhuang J – PersonEntity: Name: NameFull: Huang N – PersonEntity: Name: NameFull: Wang J – PersonEntity: Name: NameFull: Chen C IsPartOfRelationships: – BibEntity: Dates: – D: 31 M: 01 Text: 2026 Jan 31 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1479-7364 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Human genomics Type: main |
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