Ontology highlight
ABSTRACT:
SUBMITTER: Brugmann SA
PROVIDER: S-EPMC3121325 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Brugmann Samantha A SA Cordero Dwight R DR Helms Jill A JA
American journal of medical genetics. Part A 20101201 12
Craniofacial anomalies are some of the most variable and common defects affecting the population. Herein, we examine a group of craniofacial disorders that are the result of defects in primary cilia; ubiquitous, microtubule-based organelles that transduce molecular signals and facilitate the interactions between the cell and its environment. Based on the frequent appearance of craniofacial phenotypes in diseases born from defective primary cilia (ciliopathies) we propose a new class of craniofac ...[more]