Molecular defects causing skeletal dysplasias.

Abstract excerpt

Almost 400 different forms of skeletal dysplasias have been described, each with characteristic clinical and radiographic features. The underlying genetic and molecular pathology is known in several forms. Correct diagnosis is important for genetic counseling, treatment decisions, follow-up and for predicting long-term outcome. With advances in molecular genetics it has become evident that variable phenotypes can...

Topics

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

• Share to Bone Diseases, Developmental
• Share to Genetic Counseling
• Share to Mutation