Faulty regulation of an architect gene can lead to rare bone disease

Mesomelic dysplasias are a group of rare genetic conditions characterized by extreme shortening of the long bones in the arms and legs. Despite several decades of research on these conditions, the exact cause of mesomelic dysplasia has remained unclear. "It was a cold case," says Denis Duboule, a professor of Developmental Genetics and Genomics at EPFL. Now, researchers in Duboule's lab may have finally cracked the mystery of how mesomelic dysplasia develops.

source https://medicalxpress.com/news/2021-08-faulty-architect-gene-rare-bone.html