Reports outline hormones research from University of Liege.

According to recent research from Liege, Belgium, "Deletion of Xpter encompassing die SHOX gene and PAR I region in familial patients with Leri-Weill Dyschondrosteosis syndrome: Heterozygote deletions or mutations of pseudoautosomal I region (PARI) encompassing the short stature homeobox-containing (SHOX) gene cause Leri-Weill Dyschondrosteosis (LWD), which is a dominantly inherited osteochondroplasia characterized by short stature with mesomelic shortening of the upper and lower limbs and Madelung deformity of the wrists. SHOX is expressed by both sex chromosomes in males and females and plays an important role in bone growth and development."

"Clinically, the LWD expression is variable and more severe in females than males clue to sex differences in oestrogen levels. Here, we report two familial cases of LWD with a large Xp terminal deletion (similar to 943 kb) of distal PAR1 encompassing the SHOX gene," wrote L. Mutesa and colleagues, University of Liege (see also Hormones).

The researchers concluded: "In addition, the ...