ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677These case reports lead to an important conclusion which changes our diagnostic work-up of early-onset childhood obesity. The authors shows that thorough work-up of clinical cohorts, combined with genetic and epigenetic analyses, can define new characteristic features of known disorders. PHP1A, and surprisingly also PHP1B,...