One way to define the function of the genes in a genome is to scrutinize mutant phenotypes in a systematic manner. Indeed, large-scale mutagenesis programmes that aim to do this have been completed ...

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a rare neurodegenerative disease that first appears in early childhood. There are four subtypes of Sanfilippo syndrome: A, B, C, ...

Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning ...