The Chediak-Higashi syndrome is a disease of infancy and early childhood ... 6159_6160 del (p.Met2053Ilefs*31) variant in the LYST gene. This is a novel variant genotype of CHS, which was not reported ...

A team of researchers from the National Institutes of Health and University of Manchester have uncovered new insights into a rare genetic disease ... which devastates the lives of children.

Frosty is an extremely rare four-year-old killer whale A genetic condition has caused ... but it is possibly thought to be leucism or a syndrome called Chediak-Higashi. Jessica Roam, an education ...

We report here a case of CHS in a boy aged 2½ years who presented to us with pneumonia which turned to be Chédiak-Higashi syndrome with a novel variant, not previously described in the literature, ...