Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkıran, Özlem Boybeyi Türer, Gülen Eda Utine, Tutku Soyer
Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in GRK2, a subfamily of mammalian G protein-coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD...
April 22, 2024: American Journal of Medical Genetics. Part A