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10.1097/MOP.0000000000000358

http://scihub22266oqcxt.onion/10.1097/MOP.0000000000000358
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C4904788!4904788!27070443
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suck abstract from ncbi


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pmid27070443      Curr+Opin+Pediatr 2016 ; 28 (3): 339-47
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  • The Evolving Spectrum of Ciliopathies and Respiratory Disease #MMPMID27070443
  • Milla CE
  • Curr Opin Pediatr 2016[Jun]; 28 (3): 339-47 PMID27070443show ga
  • Purpose of review: Research on the biology of cilia, complex hair-like cellular organelles, has greatly informed our understanding of its crucial role in respiratory health and the pathogenesis of Primary Ciliary Dyskinesia (PCD), including the genetics behind this condition. This review will summarize the current state of the art in the field highlighting its clinical implications. Recent findings: The genetics of PCD have exploded over the past few years as knowledge acquired from model systems has permitted the identification of genes that are key components of the ciliary apparatus and its function. In addition clinical criteria and diagnostic tools have emerged that are permitting more clear identification of affected individuals. Summary: The rate of progress in the field continues to accelerate through international collaborative efforts and standardization of methods. Although the genetics behind PCD are complex given the large number of genes associated with disease as well as the large number of possible mutations even at the individual gene level, this knowledge is rapidly translating in improved diagnostics and hopefully in the near future in the identification of potential therapeutics.
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