Skeletal Ciliopathies: The Fetal Phenotype and Genetic Correlates
Skeletal ciliopathies are inherited genetic skeletal dysplasias which result from defects in the biosynthesis and/or function of primary cilia. The predominant skeletal phenotype includes a narr... Download PDF
Stylianos Velonis, Panagiotis Skaltsounis and Anastasia E Konstantinidou*