Vol. 6, Issue 5 (2017)

Author(s):
Gummalla Pitchaiah and E Pushpalatha

Abstract:
The identification of novel mutations causing genetic disease has seen more progress in the last few years than in the previous twenty. This increased body of research has resulted in a wealth of information regarding the pathogenesis of rare genetic diseases. In this review, we illustrate the underlying pathogenesis of few horrifying rare genetic diseases like Ectrodactyly, Proteus syndrome, Polymelia, Neurofibromatoses, Diprosopus, Anencephaly, Cutaneous horn, Harlequin ichthyosis and Cyclopia in humans.