G36/Action on Hearing Loss/United Kingdom[Grants and Funding] - Search Results

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Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H. Schraders M, et al. Am J Hum Genet. 2010 Apr 9;86(4):604-10. doi: 10.1016/j.ajhg.2010.02.015. Epub 2010 Mar 25. Am J Hum Genet. 2010. PMID: 20346435 Free PMC article.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B. Li Y, et al. Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170898 Free PMC article.

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