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  • Craniofacial ciliopathies: A new classification for craniofacial disorders #MMPMID21108387
  • Brugmann SA; Cordero DR; Helms JA
  • Am J Med Genet A 2010[Dec]; 152A (12): 2995-3006 PMID21108387show ga
  • 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 craniofacial disorders referred to as craniofacial ciliopathies. We explore the most frequent phenotypes associated with ciliopathic conditions and the ciliary gene mutations responsible for craniofacial defects. Finally, we propose that some non-classified disorders may now be classified as craniofacial ciliopathies.
  • |Animals[MESH]
  • |Cilia/*genetics/*pathology[MESH]
  • |Ciliary Motility Disorders/*classification[MESH]
  • |Craniofacial Abnormalities/*classification[MESH]
  • |Disease Models, Animal[MESH]
  • |Forecasting[MESH]
  • |Humans[MESH]
  • |Mutation[MESH]
  • |Phenotype[MESH]
  • |Signal Transduction/genetics[MESH]
  • |Tumor Suppressor Proteins/genetics[MESH]

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  • suck abstract from ncbi

    2995 12.152A 2010