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pro vyhledávání: '"Jorge A. Ortiz Sanchez"'
Autor:
Ivan Duran, Wenjuan Zhang, Deborah Krakow, S. Paige Taylor, Daniel H. Cohn, Ralph S. Lachman, Kimberly N. Forlenza, Jorge A. Ortiz Sanchez, Lisette Nevarez, Hayley A. Ennis, Bing Li, Deborah A. Nickerson, Michael J. Bamshad
Publikováno v:
Human mutation. 39(1)
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow che