A frequent oligogenic involvement in congenital hypothyroidism

Tiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani

Research output: Contribution to journalArticle

Abstract

Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in 
Original languageEnglish
Pages (from-to)2507-2514
Number of pages8
JournalHuman Molecular Genetics
Volume26
Issue number13
DOIs
Publication statusPublished - Jul 1 2017

Keywords

  • Cohort Studies
  • Computational Biology
  • Congenital Hypothyroidism
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Italy
  • Male
  • Multifactorial Inheritance
  • Mutation
  • Pedigree
  • Phenotype
  • Journal Article
  • Research Support, Non-U.S. Gov't

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