Abstract Background Charcot‐Marie‐Tooth (CMT) disease is a very heterogeneous neurological condit
Abstract We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 co
Significance The parasitic weed Striga
International audience Deafness and myopia syndrome is characterized by moderate-prof
In this study, we present a Sudanese 46,XY patient raised as a female and diagnosed at the age of 20