A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.
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| Title: | A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia. |
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| Authors: | Pagnamenta AT; Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK., Hashim M; Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK., Kennedy J; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Lawton B; Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK., Offiah AC; Division of Clinical Medicine, The University of Sheffield, Sheffield, UK., Taylor JC; Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK., Smithson SF; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. |
| Source: | Clinical genetics [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 86-91. Date of Electronic Publication: 2025 Feb 02. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14709 |
