Article
A frequent oligogenic involvement in congenital hypothyroidism.
Human molecular genetics - 1 Jul 2017
de Filippis Tiziana, Gelmini Giulia, Paraboschi Elvezia, Vigone Maria Cristina, Di Frenna Marianna, Marelli Federica, Bonomi Marco, Cassio Alessandra, Larizza Daniela, Moro Mirella, Radetti Giorgio, Salerno Mariacarolina, Ardissino Diego, Weber Giovanna, Gentilini Davide, Guizzardi Fabiana, Duga Stefano, Persani Luca
Abstract excerpt
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 <10% of the investigated patients. Here, we characterize the involvement of 11 candidate genes through a systematic Next Generation Sequencing (NGS) analysis. The NGS was performed in...
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