Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.

Abstract excerpt

Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification of lamin. Nine distinct pathogenic variants have been identified in 11 patients from nine unrelated families with this disorder....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bone and Bones
• Share to Craniofacial Abnormalities