Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

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Title: Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Authors: Baz-Redón N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Antolín M; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Clemente M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Campos A; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Mogas E; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Fernández-Cancio M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Zafon E; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., García-Arumí E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Soler L; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., González-Llorens N; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Aguilar-Riera C; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Camats-Tarruella N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Yeste D; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
Source: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 03; Vol. 25 (15). Date of Electronic Publication: 2024 Aug 03.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
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  Data: <searchLink fieldCode="AU" term="%22Baz-Redón+N%22">Baz-Redón N</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Antolín+M%22">Antolín M</searchLink>; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Clemente+M%22">Clemente M</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.<br /><searchLink fieldCode="AU" term="%22Campos+A%22">Campos A</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.<br /><searchLink fieldCode="AU" term="%22Mogas+E%22">Mogas E</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Cancio+M%22">Fernández-Cancio M</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Zafon+E%22">Zafon E</searchLink>; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22García-Arumí+E%22">García-Arumí E</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Soler+L%22">Soler L</searchLink>; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22González-Llorens+N%22">González-Llorens N</searchLink>; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Aguilar-Riera+C%22">Aguilar-Riera C</searchLink>; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Camats-Tarruella+N%22">Camats-Tarruella N</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Yeste+D%22">Yeste D</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
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