Background: Delleman–Oorthuys syndrome, also known as oculocerebrocutaneous sy
Nodding syndrome is a mysterious neurologic illness of unknown etiology, presenting with distinctive
Introduction The polycystic ovary syndrome (PCOS) is a heterogeneous disease with multiple facets.
Abstract We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 co