title: Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.
authors.affiliation: Dipartimento di Endocrinologia e Metabolismo, Centro Eccellenza AmbiSEN, Università degli Studi di Pisa, Via Paradisa 2, 56124 Cisanello, Pisa, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Montanelli
authors.forename: Massimo
authors.initials: M
authors.lastname: Tonacchera
mesh_terms: D000818:Animals; D004268:DNA-Binding Proteins / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D051379:Mice; D009154:Mutation; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010641:Phenotype; D050033:Thyroid Dysgenesis / Q000235:genetics*; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors; C504003:TTF1 protein, human; D014157:Transcription Factors