Paz-Filho, Gilberto; Boguszewski, Margaret; Mastronardi, Claudio; Patel, Hardip; Johar, Angad; Chuah, Aaron; Huttley, Gavin; Boguszewski, Cesar; Wong, Ma-Li; Arcos-Burgos, Mauricio; Licinio, Julio
Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male teenager and one female child with severe early-onset obesity. Additionally, the teenager patient had hypopituitarism and hyperprolactinaemia. A comprehensive bioinformatics analysis found de novo and compound heterozygote sequence variants...[Show more]
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