ESPE Abstracts

Background: The Xp21 contiguous gen deletion syndrome is a rare disorder which is characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and Duchenne muscular dystrophy. It is caused by partial deletion of Xp 21. On Xp21 several genes are located contiguously, such as NR0B1/DAX1, dystrofin gen and gene for glycerol kinase, and the clinical features depend on the size of the deletion. The major clinical manif...