26 Apr, 16 | by hqqu
Floating-Harbor syndrome (FHS) is a rare human disease characterized by developmental defects, often associated with mental retardation. FHS was first described at Boston’s Floating Hospital in 1973, but the causative gene, called Srcap, was identified only recently. Srcap encodes a protein with a key role in control of gene expression, however, the underlying molecular bases of FHS still need elucidating. In this review article, the authors critically examine recent studies on FHS, proposing possible mechanisms for the molecular events leading to the onset of the disease. (By Professor Patrizio Dimitri, http://jmg.bmj.com/content/early/2016/04/26/jmedgenet-2016-103842 )
From left to right:
Maria Teresa Atterrato, Giovanni Messina, Emanuele Celauro, Patrizio Dimitri, Yuri Prozzillo.