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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.
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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  Data: A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.
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  Data: <searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Hashim+M%22">Hashim M</searchLink>; Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Kennedy+J%22">Kennedy J</searchLink>; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Lawton+B%22">Lawton B</searchLink>; Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Offiah+AC%22">Offiah AC</searchLink>; Division of Clinical Medicine, The University of Sheffield, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Taylor+JC%22">Taylor JC</searchLink>; Oxford BRC, Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Smithson+SF%22">Smithson SF</searchLink>; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 86-91. <i>Date of Electronic Publication: </i>2025 Feb 02.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1111/cge.14709
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              Text: 2025 Jul
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