High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene : clinical characterization and functional studies of the mutated SLC26A4 protein
- Author
- FUGAZZOLA, Laura1 2 ; CIRELLO, Valentina1 ; PAULMICHL, Markus3 ; DOSSENA, Silvia3 ; RODIGHIERO, Simona3 ; MUZZA, Marina1 ; CASTORINA, Pierangela4 ; LALATTA, Faustina4 ; AMBROSETTI, Umberto5 6 ; BECK-PECCOZ, Paolo1 2 ; BOTTA, Guido3
[1] Department of Medical Sciences, University of Milan, 20122 Milan, Italy
[2] Endocrine and Diabetes Unit, Fondazione Policlinico IRCCS, 20122 Milan, Italy
[3] Department of Biomolecular Sciences and Biotechnology and CIMAINA, University of Milan, 20133 Milan, Italy
[4] Medical Genetic Unit, Fondazione Policlinico IRCCS, 20122 Milan, Italy
[5] Department of Otorhinolaryngology and Ophthalmology, University of Milan, 20122 Milan, Italy
[6] Audiology Unit, Fondazione Policlinico IRCCS, 20122 Milan, Italy - Source
European journal of endocrinology. 2007, Vol 157, Num 3, pp 331-338, 8 p ; ref : 37 ref
- ISSN
- 0804-4643
- Scientific domain
- Endocrinology
- Publisher
- Portland Press, Colchester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Duplication Endocrinologie Etude familiale Homme Malade Mutation Pendred syndrome Protéine Symptomatologie Séquence nucléotide Variation phénotypique Gène SLC26A4 Endocrinopathie Maladie héréditaire ORL pathologie Thyroïde pathologie
- Keyword (en)
- Duplication Endocrinology Family study Human Patient Mutation Pendred syndrome Protein Symptomatology Nucleotide sequence Phenotype variation Endocrinopathy Genetic disease ENT disease Thyroid diseases
- Keyword (es)
- Duplicación Endocrinología Estudio familiar Hombre Enfermo Mutación Pendred síndrome Proteína Sintomatología Secuencia nucleótido Variación fenotípica Endocrinopatía Enfermedad hereditaria ORL patología Tiroides patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A28 Vertebrates: endocrinology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21C Thyroid. Thyroid axis (diseases) / 002B21C01 Non tumoral diseases. Target tissue resistance. Benign neoplasms
- Discipline
- Endocrinopathies Vertebrates : endocrinology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19043578
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1530/EJE-07-0263 
https://dx.doi.org/10.1530/EJE-07-0263
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