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Zhou, V. CDH23 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5087 (accessed on 22 September 2026).
Zhou V. CDH23 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5087. Accessed September 22, 2026.
Zhou, Vicky. "CDH23 Gene" Encyclopedia, https://encyclopedia.pub/entry/5087 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CDH23 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5087
Zhou, Vicky. "CDH23 Gene." Encyclopedia. Web. 24 December, 2020.
CDH23 Gene
Edit

cadherin related 23

genes

References

  1. Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ,Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG,Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J,Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ.CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse familieswith Usher syndrome and nonsyndromic deafness. Am J Hum Genet. 2002Aug;71(2):262-75.
  2. Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, SeeligerM, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Mutation ofCDH23, encoding a new member of the cadherin gene family, causes Usher syndrometype 1D. Nat Genet. 2001 Jan;27(1):108-12.
  3. Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z,Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ.Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are causedby allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001 Jan;68(1):26-37.
  4. Miyagawa M, Nishio SY, Usami S. Prevalence and clinical features of hearingloss patients with CDH23 mutations: a large cohort study. PLoS One.2012;7(8):e40366. doi: 10.1371/journal.pone.0040366.
  5. Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, KimberlingWJ. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761.
  6. Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA,Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC,Riazuddin S, Friedman TB. Allelic hierarchy of CDH23 mutations causingnon-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262.
  7. Siemens J, Lillo C, Dumont RA, Reynolds A, Williams DS, Gillespie PG, MüllerU. Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature.2004 Apr 29;428(6986):950-5.
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