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 |
| ISSN: | 1479-7364 |
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| DOI: | 10.1186/s40246-026-00922-1 |
