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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5.
Am J Hum Genet. 2009.
PMID: 19200523
Free PMC article.
Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.
Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM.
Reish O, et al.
Ann Hum Genet. 2010 Mar;74(2):117-25. doi: 10.1111/j.1469-1809.2009.00559.x. Epub 2010 Jan 8.
Ann Hum Genet. 2010.
PMID: 20070851
Free PMC article.
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Häffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA.
Panizzi JR, et al. Among authors: castleman vh.
Nat Genet. 2012 May 13;44(6):714-9. doi: 10.1038/ng.2277.
Nat Genet. 2012.
PMID: 22581229
Free PMC article.
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Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM.
Murphy SM, et al.
J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. doi: 10.1136/jnnp-2012-302451. Epub 2012 May 10.
J Neurol Neurosurg Psychiatry. 2012.
PMID: 22577229
Free PMC article.
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