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A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.

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Title: A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.
Authors: Yamaguti PM; Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil., Braz SV; Department of Internal Medicine, Clinical Genetics, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.; Federal University of Amazon, Manaus, Brazil., Asselin A; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France., Leite AF; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.; Department of Dentistry, Division of Radiology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil., de Lima CL; Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil., de Carvalho DR; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Mestrinho HD; Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil., Figueiredo PT; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.; Department of Dentistry, Division of Radiology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil., Santos G; Laboratory of Molecular Pharmacology, University of Brasília, Faculty of Health Sciences, Brasilia, Brazil., de Aguiar Montenegro N; Laboratory of Molecular Pharmacology, University of Brasília, Faculty of Health Sciences, Brasilia, Brazil., Nowwarote N; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.; Dental Faculty, Université Paris Cité, Paris, France., Fournier BPJ; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.; Dental Faculty, Université Paris Cité, Paris, France.; Reference Center of Oral Rare Diseases O-Rares, Rothschild Hospital, Public Assistance-Paris Hospitals, Paris, France., de La Dure-Molla M; Dental Faculty, Université Paris Cité, Paris, France.; Reference Center of Oral Rare Diseases O-Rares, Rothschild Hospital, Public Assistance-Paris Hospitals, Paris, France.; Reference Center for Skeletal Dysplasia Necker Enfants Malades Hospital, Paris, France., Berdal A; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.; Dental Faculty, Université Paris Cité, Paris, France.; Reference Center of Oral Rare Diseases O-Rares, Rothschild Hospital, Public Assistance-Paris Hospitals, Paris, France., de Castro LCG; Pediatric Endocrinology, University of Brasilia, School of Medicine, Brasilia, Brazil., Regattieri NAT; Department of Internal Medicine, Division of Radiology, University of Brasilia, Faculty of Medicine, Brasilia, Brazil., Mazzeu JF; Department of Internal Medicine, Clinical Genetics, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.; National Institute of Rare Diseases, in Raras-Brazil, University of Brasilia, Brasilia, Brazil., Isaac J; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.; Dental Faculty, Université Paris Cité, Paris, France., Acevedo AC; Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.
Source: Clinical genetics [Clin Genet] 2025 Dec; Vol. 108 (6), pp. 720-725. Date of Electronic Publication: 2025 Jun 02.
Publication Type: Journal Article; Case Reports; 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 Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.
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  Data: <searchLink fieldCode="AU" term="%22Yamaguti+PM%22">Yamaguti PM</searchLink>; Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Braz+SV%22">Braz SV</searchLink>; Department of Internal Medicine, Clinical Genetics, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.; Federal University of Amazon, Manaus, Brazil.<br /><searchLink fieldCode="AU" term="%22Asselin+A%22">Asselin A</searchLink>; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.<br /><searchLink fieldCode="AU" term="%22Leite+AF%22">Leite AF</searchLink>; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.; Department of Dentistry, Division of Radiology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Lima+CL%22">de Lima CL</searchLink>; Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Carvalho+DR%22">de Carvalho DR</searchLink>; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Mestrinho+HD%22">Mestrinho HD</searchLink>; Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Figueiredo+PT%22">Figueiredo PT</searchLink>; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.; Department of Dentistry, Division of Radiology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Santos+G%22">Santos G</searchLink>; Laboratory of Molecular Pharmacology, University of Brasília, Faculty of Health Sciences, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Aguiar+Montenegro+N%22">de Aguiar Montenegro N</searchLink>; Laboratory of Molecular Pharmacology, University of Brasília, Faculty of Health Sciences, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Nowwarote+N%22">Nowwarote N</searchLink>; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.; Dental Faculty, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fournier+BPJ%22">Fournier BPJ</searchLink>; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.; Dental Faculty, Université Paris Cité, Paris, France.; Reference Center of Oral Rare Diseases O-Rares, Rothschild Hospital, Public Assistance-Paris Hospitals, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+La+Dure-Molla+M%22">de La Dure-Molla M</searchLink>; Dental Faculty, Université Paris Cité, Paris, France.; Reference Center of Oral Rare Diseases O-Rares, Rothschild Hospital, Public Assistance-Paris Hospitals, Paris, France.; Reference Center for Skeletal Dysplasia Necker Enfants Malades Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Berdal+A%22">Berdal A</searchLink>; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.; Dental Faculty, Université Paris Cité, Paris, France.; Reference Center of Oral Rare Diseases O-Rares, Rothschild Hospital, Public Assistance-Paris Hospitals, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Castro+LCG%22">de Castro LCG</searchLink>; Pediatric Endocrinology, University of Brasilia, School of Medicine, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Regattieri+NAT%22">Regattieri NAT</searchLink>; Department of Internal Medicine, Division of Radiology, University of Brasilia, Faculty of Medicine, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Mazzeu+JF%22">Mazzeu JF</searchLink>; Department of Internal Medicine, Clinical Genetics, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.; National Institute of Rare Diseases, in Raras-Brazil, University of Brasilia, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Isaac+J%22">Isaac J</searchLink>; Université Paris Cité, UMR1313 INSERM Santé Orale, Montrouge, France.; Dental Faculty, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Acevedo+AC%22">Acevedo AC</searchLink>; Department of Dentistry, Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.; Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasilia, Brazil.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Dec; Vol. 108 (6), pp. 720-725. <i>Date of Electronic Publication: </i>2025 Jun 02.
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