Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.
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| Title: | Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis. |
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| Authors: | Kao HJ; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Wang EHF; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Yeh EC; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Chen HH; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Hsieh FJ; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Ko TM; Genephile Bioscience Laboratory, Taipei, Taiwan., Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Kwok PY; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.; Cardiovascular Research Institute, Institute for Human Genetics, and Department of Dermatology, University of California, San Francisco, San Francisco, California, USA., Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. |
| Source: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2025 Jun; Vol. 13 (6), pp. e70115. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2324-9269 |
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| DOI: | 10.1002/mgg3.70115 |
